COL5A3[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 545228	Single allele	ZNF562, ZNF699 +132 more	Duplication	Autism	GLikely pathogenic
Select item 59110	GRCh38/hg38 19p13.2-13.13(chr19:8831147-13331227)x3	LOC126862863, LOC126862864 +536 more	Copy number gain	See cases	GLikely pathogenic
Select item 146077	GRCh38/hg38 19p13.2(chr19:9735443-11228001)x1	PPAN, PPAN-P2RY11 +184 more	Copy number loss	See cases	GPathogenic
Select item 2350716	NM_015719.4(COL5A3):c.5141C>T (p.Ala1714Val)	COL5A3 (A1714V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3268772	NM_015719.4(COL5A3):c.5138G>A (p.Arg1713Gln)	COL5A3 (R1713Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259719	NM_015719.4(COL5A3):c.5110A>C (p.Lys1704Gln)	COL5A3 (K1704Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331209	NM_015719.4(COL5A3):c.5108C>T (p.Thr1703Met)	COL5A3 (T1703M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3268783	NM_015719.4(COL5A3):c.5089C>G (p.Arg1697Gly)	COL5A3 (R1697G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3268789	NM_015719.4(COL5A3):c.5063C>A (p.Thr1688Asn)	COL5A3 (T1688N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386488	NM_015719.4(COL5A3):c.5056G>A (p.Ala1686Thr)	COL5A3 (A1686T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209036	NM_015719.4(COL5A3):c.5051C>A (p.Thr1684Lys)	COL5A3 (T1684K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147670	NM_015719.4(COL5A3):c.5009G>A (p.Arg1670His)	COL5A3 (R1670H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537045	NM_015719.4(COL5A3):c.4902C>G (p.Asn1634Lys)	COL5A3 (N1634K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147668	NM_015719.4(COL5A3):c.4870G>A (p.Asp1624Asn)	COL5A3 (D1624N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2568551	NM_015719.4(COL5A3):c.4867G>A (p.Ala1623Thr)	COL5A3 (A1623T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276469	NM_015719.4(COL5A3):c.4783G>C (p.Val1595Leu)	COL5A3 (V1595L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3268782	NM_015719.4(COL5A3):c.4756C>T (p.Leu1586Phe)	COL5A3 (L1586F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3268777	NM_015719.4(COL5A3):c.4742G>C (p.Gly1581Ala)	COL5A3 (G1581A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2649277	NM_015719.4(COL5A3):c.4719G>A (p.Arg1573=)	COL5A3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2479655	NM_015719.4(COL5A3):c.4718G>A (p.Arg1573Lys)	COL5A3 (R1573K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549811	NM_015719.4(COL5A3):c.4657C>T (p.His1553Tyr)	COL5A3 (H1553Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604010	NM_015719.4(COL5A3):c.4633C>T (p.His1545Tyr)	COL5A3 (H1545Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592863	NM_015719.4(COL5A3):c.4514C>G (p.Pro1505Arg)	COL5A3 (P1505R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248395	NM_015719.4(COL5A3):c.4420C>G (p.Arg1474Gly)	COL5A3 (R1474G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384602	NM_015719.4(COL5A3):c.4403C>T (p.Pro1468Leu)	COL5A3 (P1468L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3268791	NM_015719.4(COL5A3):c.4360G>T (p.Gly1454Cys)	COL5A3 (G1454C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3268779	NM_015719.4(COL5A3):c.4340T>C (p.Leu1447Pro)	COL5A3 (L1447P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390381	NM_015719.4(COL5A3):c.4332T>G (p.Ile1444Met)	COL5A3 (I1444M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292932	NM_015719.4(COL5A3):c.4330A>G (p.Ile1444Val)	COL5A3 (I1444V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147664	NM_015719.4(COL5A3):c.4313C>T (p.Pro1438Leu)	COL5A3 (P1438L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147663	NM_015719.4(COL5A3):c.4291C>T (p.Pro1431Ser)	COL5A3 (P1431S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3268788	NM_015719.4(COL5A3):c.4285C>A (p.Gln1429Lys)	COL5A3 (Q1429K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341122	NM_015719.4(COL5A3):c.4232T>C (p.Ile1411Thr)	COL5A3 (I1411T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272850	NM_015719.4(COL5A3):c.4225G>A (p.Gly1409Ser)	COL5A3 (G1409S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 545128	NM_015719.4(COL5A3):c.4204A>C (p.Lys1402Gln)	COL5A3 (K1402Q)	Single nucleotide variant (missense variant)	Keratoconus	GUncertain significance
Select item 3268784	NM_015719.4(COL5A3):c.4201G>A (p.Glu1401Lys)	COL5A3 (E1401K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351606	NM_015719.4(COL5A3):c.4171G>A (p.Gly1391Arg)	COL5A3 (G1391R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147662	NM_015719.4(COL5A3):c.4057C>T (p.Arg1353Cys)	COL5A3 (R1353C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2267558	NM_015719.4(COL5A3):c.4051C>T (p.Pro1351Ser)	COL5A3 (P1351S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533236	NM_015719.4(COL5A3):c.3881C>T (p.Pro1294Leu)	COL5A3 (P1294L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287428	NM_015719.4(COL5A3):c.3866G>C (p.Gly1289Ala)	COL5A3 (G1289A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536869	NM_015719.4(COL5A3):c.3865G>A (p.Gly1289Ser)	COL5A3 (G1289S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147661	NM_015719.4(COL5A3):c.3793G>A (p.Gly1265Arg)	COL5A3 (G1265R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368774	NM_015719.4(COL5A3):c.3790C>T (p.Pro1264Ser)	COL5A3 (P1264S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3268780	NM_015719.4(COL5A3):c.3664C>A (p.Pro1222Thr)	COL5A3 (P1222T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466938	NM_015719.4(COL5A3):c.3605G>T (p.Gly1202Val)	COL5A3 (G1202V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 770806	NM_015719.4(COL5A3):c.3584T>C (p.Val1195Ala)	COL5A3 (V1195A)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3268776	NM_015719.4(COL5A3):c.3530G>A (p.Arg1177Gln)	COL5A3 (R1177Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456670	NM_015719.4(COL5A3):c.3529C>T (p.Arg1177Trp)	COL5A3 (R1177W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147660	NM_015719.4(COL5A3):c.3503T>C (p.Met1168Thr)	COL5A3 (M1168T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2411863	NM_015719.4(COL5A3):c.3493G>A (p.Val1165Ile)	COL5A3 (V1165I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330220	NM_015719.4(COL5A3):c.3484G>A (p.Val1162Ile)	COL5A3 (V1162I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294965	NM_015719.4(COL5A3):c.3392A>G (p.Gln1131Arg)	COL5A3 (Q1131R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596249	NM_015719.4(COL5A3):c.3367C>T (p.Arg1123Trp)	COL5A3 (R1123W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147657	NM_015719.4(COL5A3):c.3298G>A (p.Gly1100Arg)	COL5A3 (G1100R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470945	NM_015719.4(COL5A3):c.3287C>T (p.Ala1096Val)	COL5A3 (A1096V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3147656	NM_015719.4(COL5A3):c.3286G>A (p.Ala1096Thr)	COL5A3 (A1096T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147655	NM_015719.4(COL5A3):c.3231C>G (p.Asp1077Glu)	COL5A3 (D1077E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2560471	NM_015719.4(COL5A3):c.3220G>A (p.Glu1074Lys)	COL5A3 (E1074K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147654	NM_015719.4(COL5A3):c.3162T>G (p.Asp1054Glu)	COL5A3 (D1054E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 781426	NM_015719.4(COL5A3):c.3148C>T (p.Pro1050Ser)	COL5A3 (P1050S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2466452	NM_015719.4(COL5A3):c.3124C>T (p.Arg1042Trp)	COL5A3 (R1042W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381975	NM_015719.4(COL5A3):c.3031G>A (p.Glu1011Lys)	COL5A3 (E1011K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602404	NM_015719.4(COL5A3):c.3011G>A (p.Gly1004Glu)	COL5A3 (G1004E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537722	NM_015719.4(COL5A3):c.2963C>T (p.Pro988Leu)	COL5A3 (P988L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3268781	NM_015719.4(COL5A3):c.2959G>A (p.Asp987Asn)	COL5A3 (D987N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147652	NM_015719.4(COL5A3):c.2930G>A (p.Gly977Asp)	COL5A3 (G977D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147651	NM_015719.4(COL5A3):c.2744C>T (p.Pro915Leu)	COL5A3 (P915L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 727368	NM_015719.4(COL5A3):c.2736G>A (p.Pro912=)	COL5A3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2365561	NM_015719.4(COL5A3):c.2711T>C (p.Leu904Pro)	COL5A3 (L904P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147650	NM_015719.4(COL5A3):c.2686G>A (p.Gly896Arg)	COL5A3 (G896R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356935	NM_015719.4(COL5A3):c.2678G>C (p.Gly893Ala)	COL5A3 (G893A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2221015	NM_015719.4(COL5A3):c.2653C>G (p.Pro885Ala)	COL5A3 (P885A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147649	NM_015719.4(COL5A3):c.2651G>C (p.Gly884Ala)	COL5A3 (G884A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530392	NM_015719.4(COL5A3):c.2575G>C (p.Asp859His)	COL5A3 (D859H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 714631	NM_015719.4(COL5A3):c.2565T>C (p.Asp855=)	COL5A3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3268778	NM_015719.4(COL5A3):c.2531C>T (p.Pro844Leu)	COL5A3 (P844L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461720	NM_015719.4(COL5A3):c.2512C>T (p.Arg838Cys)	COL5A3 (R838C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147648	NM_015719.4(COL5A3):c.2434G>C (p.Gly812Arg)	COL5A3 (G812R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2488833	NM_015719.4(COL5A3):c.2425G>A (p.Gly809Ser)	COL5A3 (G809S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265646	NM_015719.4(COL5A3):c.2401C>G (p.Pro801Ala)	COL5A3 (P801A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3268787	NM_015719.4(COL5A3):c.2390G>A (p.Gly797Glu)	COL5A3 (G797E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147647	NM_015719.4(COL5A3):c.2304G>T (p.Gln768His)	COL5A3 (Q768H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344689	NM_015719.4(COL5A3):c.2272G>A (p.Gly758Arg)	COL5A3 (G758R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3268773	NM_015719.4(COL5A3):c.2267C>T (p.Pro756Leu)	COL5A3 (P756L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350848	NM_015719.4(COL5A3):c.2257G>A (p.Ala753Thr)	COL5A3 (A753T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370571	NM_015719.4(COL5A3):c.2212T>C (p.Phe738Leu)	COL5A3 (F738L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244336	NM_015719.4(COL5A3):c.2194G>A (p.Glu732Lys)	COL5A3 (E732K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2204212	NM_015719.4(COL5A3):c.2161C>T (p.Arg721Trp)	COL5A3 (R721W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520886	NM_015719.4(COL5A3):c.2135G>T (p.Arg712Leu)	COL5A3 (R712L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364950	NM_015719.4(COL5A3):c.2117C>T (p.Pro706Leu)	COL5A3 (P706L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 218724	NM_015719.4(COL5A3):c.2060A>G (p.His687Arg)	COL5A3 (H687R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147646	NM_015719.4(COL5A3):c.2018C>T (p.Pro673Leu)	COL5A3 (P673L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206426	NM_015719.4(COL5A3):c.1894G>T (p.Gly632Cys)	COL5A3 (G632C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147645	NM_015719.4(COL5A3):c.1873C>T (p.Pro625Ser)	COL5A3 (P625S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147644	NM_015719.4(COL5A3):c.1850G>T (p.Gly617Val)	COL5A3 (G617V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311070	NM_015719.4(COL5A3):c.1844G>T (p.Arg615Leu)	COL5A3 (R615L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294305	NM_015719.4(COL5A3):c.1844G>A (p.Arg615His)	COL5A3 (R615H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316282	NM_015719.4(COL5A3):c.1826C>T (p.Ser609Phe)	COL5A3 (S609F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457253	NM_015719.4(COL5A3):c.1819A>G (p.Arg607Gly)	COL5A3 (R607G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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