13740[HGNC] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 86

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153413	GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3	AARD, ABRA +3658 more	Copy number gain	See cases	GPathogenic
Select item 154791	GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3	LOC129999937, LOC129999938 +3658 more	Copy number gain	See cases	GPathogenic
Select item 59738	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3	PKHD1L1, PKIA +3656 more	Copy number gain	See cases	GPathogenic
Select item 57496	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3	LOC126860501, LOC126860502 +3652 more	Copy number gain	See cases	GPathogenic
Select item 149660	GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3	MIR7705, MIR7848 +3656 more	Copy number gain	See cases	GPathogenic
Select item 153737	GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3	LOC130000156, LOC130000157 +3106 more	Copy number gain	See cases	GPathogenic
Select item 150770	GRCh38/hg38 8p12-q12.1(chr8:36580103-59618998)x3	LOC124174256, LOC124174257 +541 more	Copy number gain	See cases	GPathogenic
Select item 144238	GRCh38/hg38 8q11.1-13.2(chr8:46031334-69303787)x3	ADHFE1, ALKAL1 +489 more	Copy number gain	See cases	GPathogenic
Select item 150723	GRCh38/hg38 8q11.1-24.3(chr8:46031340-139285494)x3	LINC02894, LINC02906 +1960 more	Copy number gain	See cases	GPathogenic
Select item 153587	GRCh38/hg38 8q11.21-11.23(chr8:47338394-52753188)x3	ALKAL1, CEBPD +90 more	Copy number gain	See cases	GUncertain significance
Select item 58962	GRCh38/hg38 8q11.21(chr8:49301622-51279011)x1	LOC100507464, LOC124174250 +5 more	Copy number loss	See cases	GUncertain significance
Select item 58990	GRCh38/hg38 8q11.21-11.22(chr8:49455206-51671083)x1	LOC100507464, LOC124174250 +6 more	Copy number loss	See cases	GUncertain significance
Select item 154575	GRCh38/hg38 8q11.21-12.1(chr8:49471778-57825470)x1	ALKAL1, ATP6V1H +173 more	Copy number loss	See cases	GPathogenic
Select item 58417	GRCh38/hg38 8q11.21(chr8:49701257-50862570)x3	LOC124174250, LOC124174251 +1 more	Copy number gain	See cases	GUncertain significance
Select item 57284	GRCh38/hg38 8q11.21-11.23(chr8:49796560-51802072)x1	LOC124174250, LOC124174251 +5 more	Copy number loss	See cases	GUncertain significance
Select item 150144	GRCh38/hg38 8q11.21(chr8:49915078-50482580)x3	SNTG1	Copy number gain	See cases	GLikely benign
Select item 152367	GRCh38/hg38 8q11.21(chr8:49963151-50020121)x1	SNTG1	Copy number loss	See cases	GBenign
Select item 58419	GRCh38/hg38 8q11.21-11.22(chr8:49970122-51353867)x3	LOC124174250, LOC124174251 +3 more	Copy number gain	See cases	GUncertain significance
Select item 145954	GRCh38/hg38 8q11.21(chr8:50082603-50792866)x1	LOC124174250, LOC124174251 +1 more	Copy number loss	See cases	GLikely benign
Select item 144781	GRCh38/hg38 8q11.21-11.22(chr8:50220870-51694573)x3	LOC124174250, LOC124174251 +4 more	Copy number gain	See cases	GUncertain significance
Select item 58420	GRCh38/hg38 8q11.21-11.23(chr8:50236126-51705446)x3	LOC124174250, LOC124174251 +4 more	Copy number gain	See cases	GUncertain significance
Select item 157116	NM_018967.5(SNTG1):c.-27-79544_-27-75960del	SNTG1	Deletion (intron variant)	Gestational diabetes mellitus uncontrolled	Gnot provided
Select item 2559276	NM_018967.5(SNTG1):c.16G>A (p.Ala6Thr)	SNTG1 (A6T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2214639	NM_018967.5(SNTG1):c.56A>C (p.Asp19Ala)	SNTG1 (D19A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 728154	NM_018967.5(SNTG1):c.76A>C (p.Lys26Gln)	SNTG1 (K26Q)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GLikely benign
Select item 3167096	NM_018967.5(SNTG1):c.82C>T (p.Arg28Trp)	SNTG1 (R28W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3167097	NM_018967.5(SNTG1):c.83G>A (p.Arg28Gln)	SNTG1 (R28Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2458237	NM_018967.5(SNTG1):c.135T>G (p.Cys45Trp)	SNTG1 (C45W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 154869	GRCh38/hg38 8q11.21(chr8:50409781-50524517)x1	SNTG1	Copy number loss	See cases	GUncertain significance
Select item 3045278	NM_018967.5(SNTG1):c.186A>G (p.Arg62=)	SNTG1	Single nucleotide variant (synonymous variant +1 more)	SNTG1-related disorder	GLikely benign
Select item 3050595	NM_018967.5(SNTG1):c.250G>A (p.Val84Ile)	SNTG1 (V84I)	Single nucleotide variant (missense variant +1 more)	SNTG1-related disorder	GLikely benign
Select item 2464212	NM_018967.5(SNTG1):c.278C>T (p.Ala93Val)	SNTG1 (A93V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3167089	NM_018967.5(SNTG1):c.301A>G (p.Ile101Val)	SNTG1 (I101V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3050357	NM_018967.5(SNTG1):c.309T>C (p.Asp103=)	SNTG1	Single nucleotide variant (synonymous variant +1 more)	SNTG1-related disorder	GLikely benign
Select item 3167090	NM_018967.5(SNTG1):c.322A>T (p.Ile108Leu)	SNTG1 (I108L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3055929	NM_018967.5(SNTG1):c.361G>C (p.Val121Leu)	SNTG1 (V121L)	Single nucleotide variant (missense variant +1 more)	SNTG1-related disorder	GLikely benign
Select item 58991	GRCh38/hg38 8q11.21(chr8:50478437-50790996)x1	LOC124174250, LOC124174251 +1 more	Copy number loss	See cases	GUncertain significance
Select item 2570034	NM_018967.5(SNTG1):c.385G>A (p.Gly129Arg)	SNTG1 (G129R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2524126	NM_018967.5(SNTG1):c.403A>G (p.Thr135Ala)	SNTG1 (T135A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2457664	NM_018967.5(SNTG1):c.422G>C (p.Arg141Thr)	SNTG1 (R141T)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 3031937	NM_018967.5(SNTG1):c.432T>C (p.Ala144=)	SNTG1	Single nucleotide variant (synonymous variant +1 more)	SNTG1-related disorder	GLikely benign
Select item 3167091	NM_018967.5(SNTG1):c.493A>G (p.Thr165Ala)	SNTG1 (T165A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2318496	NM_018967.5(SNTG1):c.523C>T (p.His175Tyr)	SNTG1 (H175Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2529462	NM_018967.5(SNTG1):c.545A>G (p.Asn182Ser)	SNTG1 (N182S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3167092	NM_018967.5(SNTG1):c.548C>G (p.Thr183Arg)	SNTG1 (T183R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3034214	NM_018967.5(SNTG1):c.633A>G (p.Leu211=)	SNTG1	Single nucleotide variant (synonymous variant +1 more)	SNTG1-related disorder	GBenign
Select item 3167093	NM_018967.5(SNTG1):c.640T>G (p.Ser214Ala)	SNTG1 (S214A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3048491	NM_018967.5(SNTG1):c.642G>C (p.Ser214=)	SNTG1	Single nucleotide variant (synonymous variant +1 more)	SNTG1-related disorder	GLikely benign
Select item 3040002	NM_018967.5(SNTG1):c.664G>A (p.Gly222Ser)	SNTG1 (G222S)	Single nucleotide variant (missense variant +1 more)	SNTG1-related disorder	GLikely benign
Select item 3167094	NM_018967.5(SNTG1):c.697G>T (p.Val233Phe)	SNTG1 (V233F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3033568	NM_018967.5(SNTG1):c.722C>G (p.Thr241Ser)	SNTG1 (T241S)	Single nucleotide variant (missense variant +1 more)	SNTG1-related disorder	GBenign
Select item 2540787	NM_018967.5(SNTG1):c.799A>G (p.Thr267Ala)	SNTG1 (T267A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3167095	NM_018967.5(SNTG1):c.804G>C (p.Lys268Asn)	SNTG1 (K268N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2600118	NM_018967.5(SNTG1):c.857A>G (p.Tyr286Cys)	SNTG1 (Y286C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3057793	NM_018967.5(SNTG1):c.927C>T (p.Ala309=)	SNTG1	Single nucleotide variant (synonymous variant +1 more)	SNTG1-related disorder	GLikely benign
Select item 776324	NM_018967.5(SNTG1):c.967-3A>C	SNTG1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2461540	NM_018967.5(SNTG1):c.1042A>G (p.Ser348Gly)	SNTG1 (S348G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 711319	NM_018967.5(SNTG1):c.1134C>T (p.Leu378=)	SNTG1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign/Likely benign
Select item 3051022	NM_018967.5(SNTG1):c.1191+3G>T	SNTG1	Single nucleotide variant (intron variant)	SNTG1-related disorder	GLikely benign
Select item 2658594	NM_018967.5(SNTG1):c.1192-979A>G	SNTG1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2532808	NM_018967.5(SNTG1):c.1240A>G (p.Ile414Val)	SNTG1 (I414V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2289736	NM_018967.5(SNTG1):c.1262T>C (p.Ile421Thr)	SNTG1 (I421T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3034445	NM_018967.5(SNTG1):c.1284+25G>T	SNTG1	Single nucleotide variant (3 prime UTR variant +2 more)	SNTG1-related disorder	GBenign
Select item 3053436	NM_018967.5(SNTG1):c.1284+31T>C	SNTG1	Single nucleotide variant (3 prime UTR variant +2 more)	SNTG1-related disorder	GLikely benign
Select item 3039098	NM_018967.5(SNTG1):c.1285-6dup	SNTG1	Duplication (intron variant)	SNTG1-related disorder	GBenign
Select item 3167088	NM_018967.5(SNTG1):c.1538C>T (p.Ala513Val)	SNTG1 (A513V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3045930	NM_018967.5(SNTG1):c.*4A>G	SNTG1	Single nucleotide variant (3 prime UTR variant +1 more)	SNTG1-related disorder	GLikely benign
Select item 3063025	GRCh37/hg19 8p21.2-q21.3(chr8:27024288-89410121)x3	ADAM18, ADAM2 +240 more	Copy number gain	not specified	GPathogenic
Select item 3063013	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	AARD, ABRA +665 more	Copy number gain	not specified	GPathogenic
Select item 2684541	GRCh37/hg19 8q11.21-11.23(chr8:51117736-52624904)x3	PXDNL, SNTG1	Copy number gain	not provided	GUncertain significance
Select item 2684540	GRCh37/hg19 8q11.21(chr8:50548057-50905490)x3	SNTG1	Copy number gain	not provided	GUncertain significance
Select item 2580355	GRCh37/hg19 8p11.23-q11.21(chr8:36763176-50929707)x3	NKX6-3, PPDPFL +64 more	Copy number gain	See cases	GPathogenic
Select item 1809447	GRCh37/hg19 8q11.21-11.23(chr8:50665838-52746068)x1	PCMTD1, PXDNL +1 more	Copy number loss	not provided	GUncertain significance
Select item 1703544	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)	AARD, ABRA +665 more	Copy number gain	Polydactyly	GPathogenic
Select item 1340505	GRCh37/hg19 8q11.21(chr8:50208352-52190247)x1	SNTG1	Copy number loss	not provided	GUncertain significance
Select item 815126	GRCh37/hg19 8q11.21(chr8:50890196-51117740)x1	SNTG1	Copy number loss	not provided	GLikely benign
Select item 687787	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	MICU3, MIR1234 +665 more	Copy number gain	not provided	GPathogenic
Select item 687493	GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3	VPS13B, VPS28 +474 more	Copy number gain	not provided	GPathogenic
Select item 686683	GRCh37/hg19 8q11.21-11.23(chr8:50665945-52739889)x1	PCMTD1, PXDNL +1 more	Copy number loss	not provided	GUncertain significance
Select item 685558	GRCh37/hg19 8p11.22-q12.3(chr8:39555657-64049089)x3	ADAM18, ADAM2 +78 more	Copy number gain	not provided	GPathogenic
Select item 563544	GRCh37/hg19 8q11.1-11.23(chr8:46863521-55218838)x3	ALKAL1, ATP6V1H +20 more	Copy number gain	not provided	GUncertain significance
Select item 443619	GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3	KCNQ3, KCNS2 +593 more	Copy number gain	See cases	GPathogenic
Select item 442201	GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3	PPDPFL, PPP1R16A +665 more	Copy number gain	See cases	GPathogenic
Select item 442200	GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)	AARD, ABRA +665 more	Copy number gain	See cases	GPathogenic
Select item 394884	GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3	CLDN23, LONRF1 +665 more	Copy number gain	See cases	GPathogenic
Select item 393993	GRCh37/hg19 8p21.2-q12.1(chr8:24772064-24813176)x3	ALKAL1, ANK1 +133 more	Copy number gain	See cases	GUncertain significance

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 86