FAM135A[gene] - ClinVar

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Items: 52

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154460	GRCh38/hg38 6q12-14.2(chr6:64549655-83426791)x1	EEF1A1-AS1, KCNQ5-DT +310 more	Copy number loss	See cases	GPathogenic
Select item 148992	GRCh38/hg38 6q12-13(chr6:68735649-70794393)x4	ADGRB3, COL19A1 +35 more	Copy number gain	See cases	GPathogenic
Select item 155176	GRCh38/hg38 6q13(chr6:70026943-70923391)x3	B3GAT2, COL19A1 +20 more	Copy number gain	See cases	GUncertain significance
Select item 150999	GRCh38/hg38 6q13(chr6:70252200-70891985)x3	B3GAT2, COL9A1 +19 more	Copy number gain	See cases	GLikely benign
Select item 153537	GRCh38/hg38 6q13(chr6:70252257-70855775)x3	COL9A1, FAM135A +17 more	Copy number gain	See cases	GUncertain significance
Select item 151614	GRCh38/hg38 6q13(chr6:70309182-70479207)x3	FAM135A, FAM135A-AS1 +6 more	Copy number gain	See cases	GUncertain significance
Select item 2462140	NM_001162529.3(FAM135A):c.109C>T (p.Pro37Ser)	FAM135A (P37S +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2476457	NM_001162529.3(FAM135A):c.197T>A (p.Leu66Gln)	FAM135A (L33Q +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2265945	NM_001162529.3(FAM135A):c.233A>G (p.Asn78Ser)	FAM135A (N35S +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2398792	NM_001162529.3(FAM135A):c.260T>C (p.Met87Thr)	FAM135A (M44T +3 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2363528	NM_001162529.3(FAM135A):c.288T>A (p.Asp96Glu)	FAM135A (D63E +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2317591	NM_001162529.3(FAM135A):c.317A>G (p.Glu106Gly)	FAM135A (E63G +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 254142	NM_001162529.3(FAM135A):c.474C>G (p.Tyr158Ter)	FAM135A (Y158* +3 more)	Single nucleotide variant (nonsense +1 more)	Histiocytoid cardiomyopathy	GLikely benign
Select item 2533470	NM_001162529.3(FAM135A):c.540A>G (p.Ile180Met)	FAM135A (I147M +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2377189	NM_001162529.3(FAM135A):c.551G>A (p.Arg184His)	FAM135A (R98H +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2236935	NM_001162529.3(FAM135A):c.575A>G (p.Asn192Ser)	FAM135A (N106S +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2257893	NM_001162529.3(FAM135A):c.793G>A (p.Glu265Lys)	FAM135A (E179K +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2623779	NM_001162529.3(FAM135A):c.854A>G (p.Glu285Gly)	FAM135A (E268G +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2457131	NM_001162529.3(FAM135A):c.1261T>G (p.Leu421Val)	FAM135A (L388V +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2560925	NM_001162529.3(FAM135A):c.1341C>G (p.Ser447Arg)	FAM135A (S22R +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2223636	NM_001162529.3(FAM135A):c.1490T>C (p.Leu497Pro)	FAM135A (L497P +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2528728	NM_001162529.3(FAM135A):c.1588G>A (p.Ala530Thr)	FAM135A (A497T +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2458154	NM_001162529.3(FAM135A):c.1762C>T (p.Pro588Ser)	FAM135A (P614S +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2570102	NM_001162529.3(FAM135A):c.1775A>G (p.Asn592Ser)	FAM135A (N167S +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2454916	NM_001162529.3(FAM135A):c.1918T>C (p.Ser640Pro)	FAM135A (S640P +9 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2285817	NM_001162529.3(FAM135A):c.2032C>G (p.Pro678Ala)	FAM135A (P253A +9 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2307506	NM_001162529.3(FAM135A):c.2077C>G (p.Leu693Val)	FAM135A (L411V +9 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2325593	NM_001162529.3(FAM135A):c.2101T>G (p.Ser701Ala)	FAM135A (S276A +9 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2227857	NM_001162529.3(FAM135A):c.2708T>C (p.Leu903Ser)	FAM135A (L621S +8 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2656689	NM_001162529.3(FAM135A):c.3003T>C (p.Asp1001=)	FAM135A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2592893	NM_001162529.3(FAM135A):c.3100G>A (p.Val1034Ile)	FAM135A (V554I +11 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2357206	NM_001162529.3(FAM135A):c.3244G>T (p.Asp1082Tyr)	FAM135A (D1049Y +11 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2259994	NM_001162529.3(FAM135A):c.3314A>G (p.Tyr1105Cys)	FAM135A (Y1072C +11 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2220538	NM_001162529.3(FAM135A):c.3344A>G (p.His1115Arg)	FAM135A (H690R +11 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2459006	NM_001162529.3(FAM135A):c.3361G>C (p.Glu1121Gln)	FAM135A (E727Q +11 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2604104	NM_001162529.3(FAM135A):c.3436A>G (p.Thr1146Ala)	FAM135A (T1113A +11 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2390343	NM_001162529.3(FAM135A):c.3892A>G (p.Ser1298Gly)	FAM135A (S1069G +11 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2285553	NM_001162529.3(FAM135A):c.4102G>A (p.Ala1368Thr)	FAM135A (A1086T +11 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2480181	NM_001162529.3(FAM135A):c.4153T>C (p.Ser1385Pro)	FAM135A (S1103P +11 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2392910	NM_001162529.3(FAM135A):c.4231C>T (p.Leu1411Phe)	FAM135A (L1129F +11 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1807976	GRCh37/hg19 6q13(chr6:70320224-71568417)x3	COL19A1, COL9A1 +4 more	Copy number gain	not provided	GUncertain significance
Select item 1710926	GRCh37/hg19 6q13(chr6:71105038-75200617)x1	DPPA5, EEF1A1 +17 more	Copy number loss	Autism	GPathogenic
Select item 1703664	GRCh37/hg19 6q12-14.1(chr6:64954687-79581678)	B3GAT2, CD109 +32 more	Copy number loss	Chromosome 6q11-q14 deletion syndrome	GPathogenic
Select item 1527249	GRCh37/hg19 6q12-16.1(chr6:69938252-94379210)	KHDC1L, KHDC3L +88 more	Copy number gain	not specified	GPathogenic
Select item 1340605	GRCh37/hg19 6q13-14.1(chr6:70165296-79920769)x1	B3GAT2, CD109 +31 more	Copy number loss	not provided	GPathogenic
Select item 980210	GRCh37/hg19 6q13(chr6:71049005-71154724)x1	FAM135A	Copy number loss	not provided	GUncertain significance
Select item 832167	NC_000006.12:g.(?_70302001)_(70486244_?)dup	COL9A1, FAM135A	Duplication	not provided	GUncertain significance
Select item 687049	GRCh37/hg19 6q12-13(chr6:69481460-73185349)x1	ADGRB3, B3GAT2 +9 more	Copy number loss	not provided	GPathogenic
Select item 625706	GRCh37/hg19 6p22.1-q14.1(chr6:29455465-81447367)	LRRC1, LRRC73 +427 more	Copy number gain	not provided	GPathogenic
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	AIRN, BNIP5 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	PDE10A, PDE7B +1028 more	Copy number gain	See cases	GPathogenic
Select item 441663	GRCh37/hg19 6q13(chr6:70716539-71620525)x3	B3GAT2, COL19A1 +4 more	Copy number gain	See cases	GUncertain significance

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Items: 52