ClinVar for Gene (Select 55790) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3347231	NM_001354483.2(CSGALNACT1):c.901T>A (p.Phe301Ile)	CSGALNACT1 (F301I)	Single nucleotide variant (missense variant +1 more)	CSGALNACT1-related disorder	GUncertain significance
Select item 3269760	NM_001354483.2(CSGALNACT1):c.1033C>T (p.Arg345Cys)	CSGALNACT1 (R345C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3269759	NM_001354483.2(CSGALNACT1):c.221G>T (p.Ser74Ile)	CSGALNACT1 (S74I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3245558	NC_000008.10:g.(?_19263291)_(19363345_?)dup	CSGALNACT1	Duplication	not provided	GUncertain significance
Select item 3245557	NC_000008.10:g.(?_19362692)_(20112692_?)del	ATP6V1B2, CSGALNACT1 +4 more	Deletion	not provided	GPathogenic
Select item 3245556	NC_000008.10:g.(?_17915043)_(20112692_?)del	ASAH1-AS1, ATP6V1B2 +10 more	Deletion	not provided	GPathogenic
Select item 3078013	NM_001354483.2(CSGALNACT1):c.799G>A (p.Val267Met)	CSGALNACT1 (V267M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3078011	NM_001354483.2(CSGALNACT1):c.715C>T (p.Leu239Phe)	CSGALNACT1 (L239F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3078010	NM_001354483.2(CSGALNACT1):c.619T>G (p.Ser207Ala)	CSGALNACT1 (S207A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3078009	NM_001354483.2(CSGALNACT1):c.551T>C (p.Ile184Thr)	CSGALNACT1 (I184T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3078008	NM_001354483.2(CSGALNACT1):c.43G>C (p.Val15Leu)	CSGALNACT1 (V15L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3078007	NM_001354483.2(CSGALNACT1):c.1473G>C (p.Lys491Asn)	CSGALNACT1 (K491N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3078006	NM_001354483.2(CSGALNACT1):c.115G>C (p.Asp39His)	CSGALNACT1 (D39H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3063056	GRCh37/hg19 8p21.3(chr8:19211984-19268822)x1	CSGALNACT1, SH2D4A	Copy number loss	not specified	GUncertain significance
Select item 3063052	GRCh37/hg19 8p21.3(chr8:19252047-19341794)x1	CSGALNACT1, SH2D4A	Copy number loss	not specified	GUncertain significance
Select item 3063027	GRCh37/hg19 8p23.3-11.21(chr8:158048-41600696)x3	ADAM18, ADAM2 +234 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 3053958	NM_001354483.2(CSGALNACT1):c.356A>T (p.Asp119Val)	CSGALNACT1 (D119V)	Single nucleotide variant (missense variant +1 more)	CSGALNACT1-related disorder	GUncertain significance
Select item 3052944	NM_001354483.2(CSGALNACT1):c.354C>T (p.Ala118=)	CSGALNACT1	Single nucleotide variant (synonymous variant +1 more)	CSGALNACT1-related disorder	GLikely benign
Select item 3040052	NM_001354483.2(CSGALNACT1):c.348C>G (p.Thr116=)	CSGALNACT1	Single nucleotide variant (synonymous variant +1 more)	CSGALNACT1-related disorder	GLikely benign
Select item 3038018	NM_001354483.2(CSGALNACT1):c.*8G>T	CSGALNACT1	Single nucleotide variant (3 prime UTR variant +1 more)	CSGALNACT1-related disorder	GLikely benign
Select item 3032819	NM_001354483.2(CSGALNACT1):c.366C>A (p.Ala122=)	CSGALNACT1	Single nucleotide variant (synonymous variant +1 more)	CSGALNACT1-related disorder	GLikely benign
Select item 3020368	NM_001354483.2(CSGALNACT1):c.696C>T (p.His232=)	CSGALNACT1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3015756	NM_001354483.2(CSGALNACT1):c.981C>T (p.Phe327=)	CSGALNACT1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3013644	NM_001354483.2(CSGALNACT1):c.282G>A (p.Arg94=)	CSGALNACT1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3007901	NM_001354483.2(CSGALNACT1):c.498C>T (p.His166=)	CSGALNACT1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3002982	NM_001354483.2(CSGALNACT1):c.285T>C (p.Asn95=)	CSGALNACT1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3002717	NM_001354483.2(CSGALNACT1):c.1518G>A (p.Gln506=)	CSGALNACT1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2994516	NM_001354483.2(CSGALNACT1):c.1227+16G>T	CSGALNACT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2987049	NM_001354483.2(CSGALNACT1):c.1191C>A (p.Gly397=)	CSGALNACT1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2985118	NM_001354483.2(CSGALNACT1):c.930A>G (p.Lys310=)	CSGALNACT1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2981402	NM_001354483.2(CSGALNACT1):c.270T>C (p.Ser90=)	CSGALNACT1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2975823	NM_001354483.2(CSGALNACT1):c.852-19C>G	CSGALNACT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2975229	NM_001354483.2(CSGALNACT1):c.681C>T (p.Thr227=)	CSGALNACT1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2974063	NM_001354483.2(CSGALNACT1):c.372G>A (p.Leu124=)	CSGALNACT1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2971945	NM_001354483.2(CSGALNACT1):c.1314G>C (p.Gly438=)	CSGALNACT1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2971084	NM_001354483.2(CSGALNACT1):c.85C>T (p.Leu29=)	CSGALNACT1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2970524	NM_001354483.2(CSGALNACT1):c.42G>T (p.Arg14=)	CSGALNACT1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2967552	NM_001354483.2(CSGALNACT1):c.1128G>A (p.Gln376=)	CSGALNACT1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2966295	NM_001354483.2(CSGALNACT1):c.1513G>A (p.Gly505Ser)	CSGALNACT1 (G505S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2966072	NM_001354483.2(CSGALNACT1):c.986A>G (p.Gln329Arg)	CSGALNACT1 (Q329R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2965559	NM_001354483.2(CSGALNACT1):c.635-9T>C	CSGALNACT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2965114	NM_001354483.2(CSGALNACT1):c.71G>C (p.Cys24Ser)	CSGALNACT1 (C24S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2958978	NM_001354483.2(CSGALNACT1):c.159G>C (p.Gly53=)	CSGALNACT1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2956114	NM_001354483.2(CSGALNACT1):c.634+17T>A	CSGALNACT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2913778	NM_001354483.2(CSGALNACT1):c.1224G>A (p.Gln408=)	CSGALNACT1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2898830	NM_001354483.2(CSGALNACT1):c.1245T>C (p.Thr415=)	CSGALNACT1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2896771	NM_001354483.2(CSGALNACT1):c.162G>A (p.Lys54=)	CSGALNACT1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2892692	NM_001354483.2(CSGALNACT1):c.267G>A (p.Arg89=)	CSGALNACT1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2890336	NM_001354483.2(CSGALNACT1):c.99C>T (p.Ala33=)	CSGALNACT1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2887057	NM_001354483.2(CSGALNACT1):c.703G>A (p.Glu235Lys)	CSGALNACT1 (E235K)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2879714	NM_001354483.2(CSGALNACT1):c.703G>T (p.Glu235Ter)	CSGALNACT1 (E235*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 2879260	NM_001354483.2(CSGALNACT1):c.851+12C>G	CSGALNACT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2871274	NM_001354483.2(CSGALNACT1):c.851+17G>A	CSGALNACT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2846367	NM_001354483.2(CSGALNACT1):c.1090A>G (p.Thr364Ala)	CSGALNACT1 (T364A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2812837	NM_001354483.2(CSGALNACT1):c.1320T>G (p.Asp440Glu)	CSGALNACT1 (D440E)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2775983	NM_001354483.2(CSGALNACT1):c.852-9G>T	CSGALNACT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2727252	NM_001354483.2(CSGALNACT1):c.635-19C>T	CSGALNACT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2685304	GRCh37/hg19 8p21.3(chr8:19323985-20513166)x1	SLC18A1, ATP6V1B2 +4 more	Copy number loss	not provided	GUncertain significance
Select item 2685301	GRCh37/hg19 8p23.1-21.1(chr8:12490999-28150620)x1	HR, MIR320A +95 more	Copy number loss	not provided	GPathogenic
Select item 2684529	GRCh37/hg19 8p22-11.1(chr8:14240573-43824035)x3	ADAM18, ADAM2 +176 more	Copy number gain	not provided	GPathogenic
Select item 2684528	GRCh37/hg19 8p23.1-11.22(chr8:12560782-38748763)x3	ADAM28, ADAM7 +145 more	Copy number gain	not provided	GPathogenic
Select item 2684526	GRCh37/hg19 8p23.1-11.23(chr8:11945856-37902453)x3	ADAM28, ADAM7 +140 more	Copy number gain	not provided	GPathogenic
Select item 2684517	GRCh37/hg19 8p23.2-11.21(chr8:2201405-41723095)x3	SMIM18, SORBS3 +225 more	Copy number gain	not provided	GPathogenic
Select item 2671608	Single allele	ADAM18, ADAM2 +180 more	Duplication	not provided	GPathogenic
Select item 2616277	NM_001354483.2(CSGALNACT1):c.641A>G (p.Tyr214Cys)	CSGALNACT1 (Y214C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2601756	NM_001354483.2(CSGALNACT1):c.1548A>G (p.Ile516Met)	CSGALNACT1 (I516M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2599043	NM_001354483.2(CSGALNACT1):c.622G>T (p.Asp208Tyr)	CSGALNACT1 (D208Y)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2596580	NM_001354483.2(CSGALNACT1):c.1405G>A (p.Val469Met)	CSGALNACT1 (V469M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2592238	NM_001354483.2(CSGALNACT1):c.178G>A (p.Val60Ile)	CSGALNACT1 (V60I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2579290	GRCh38/hg38 8p23.3-21.2(chr8:449893-23854904)x1	LOC126860300, LOC126860301 +720 more	Copy number loss	Neurodevelopmental disorder	GPathogenic
Select item 2579268	GRCh38/hg38 8p23.1-12(chr8:12721809-30183737)x1	ADAM28, ADAM7 +567 more	Copy number loss	Microcephaly	GPathogenic
Select item 2552337	NM_001354483.2(CSGALNACT1):c.244C>T (p.Leu82Phe)	CSGALNACT1 (L82F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2542848	NM_001354483.2(CSGALNACT1):c.1081A>G (p.Ile361Val)	CSGALNACT1 (I361V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2532966	NM_001354483.2(CSGALNACT1):c.972C>G (p.Asn324Lys)	CSGALNACT1 (N324K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2506476	NM_001354483.2(CSGALNACT1):c.632_634del (p.Glu211del)	CSGALNACT1 (E211del)	Deletion (inframe_deletion +1 more)	Skeletal dysplasia, mild, with joint laxity and advanced bone age	GLikely pathogenic
Select item 2495947	NM_001354483.2(CSGALNACT1):c.936A>G (p.Ile312Met)	CSGALNACT1 (I312M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2493565	NM_001354483.2(CSGALNACT1):c.1459C>G (p.Pro487Ala)	CSGALNACT1 (P487A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2445493	NC_000008.10:g.(?_17915043)_(20112692_?)dup	ASAH1, ASAH1-AS1 +10 more	Duplication	not provided	GUncertain significance
Select item 2423791	NC_000008.10:g.(?_19362692)_(19363345_?)dup	CSGALNACT1	Duplication	not provided	GUncertain significance
Select item 2423790	NC_000008.10:g.(?_19276147)_(19316173_?)del	CSGALNACT1	Deletion	not provided	GPathogenic
Select item 2416316	NM_001354483.2(CSGALNACT1):c.954-8C>T	CSGALNACT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2412265	NM_001354483.2(CSGALNACT1):c.575A>G (p.Asn192Ser)	CSGALNACT1 (N192S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2385550	NM_001354483.2(CSGALNACT1):c.1462G>A (p.Glu488Lys)	CSGALNACT1 (E488K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2379181	NM_001354483.2(CSGALNACT1):c.1511A>G (p.His504Arg)	CSGALNACT1 (H504R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2256058	NM_001354483.2(CSGALNACT1):c.884A>C (p.His295Pro)	CSGALNACT1 (H295P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2241067	NM_001354483.2(CSGALNACT1):c.784C>G (p.Leu262Val)	CSGALNACT1 (L262V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2223643	NM_001354483.2(CSGALNACT1):c.1364G>A (p.Arg455His)	CSGALNACT1 (R455H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2213443	NM_001354483.2(CSGALNACT1):c.82G>C (p.Val28Leu)	CSGALNACT1 (V28L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2207262	NM_001354483.2(CSGALNACT1):c.1574A>T (p.Gln525Leu)	CSGALNACT1 (Q525L)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2193608	NM_001354483.2(CSGALNACT1):c.576C>G (p.Asn192Lys)	CSGALNACT1 (N192K)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2191851	NM_001354483.2(CSGALNACT1):c.742A>G (p.Ile248Val)	CSGALNACT1 (I248V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2191193	NM_001354483.2(CSGALNACT1):c.910G>A (p.Glu304Lys)	CSGALNACT1 (E304K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2185815	NM_001354483.2(CSGALNACT1):c.604C>T (p.Arg202Cys)	CSGALNACT1 (R202C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2183510	NM_001354483.2(CSGALNACT1):c.1417T>C (p.Phe473Leu)	CSGALNACT1 (F473L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2179665	NM_001354483.2(CSGALNACT1):c.269G>C (p.Ser90Thr)	CSGALNACT1 (S90T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2174150	NM_001354483.2(CSGALNACT1):c.953+10A>G	CSGALNACT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2169938	NM_001354483.2(CSGALNACT1):c.830G>A (p.Arg277Gln)	CSGALNACT1 (R277Q)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2164097	NM_001354483.2(CSGALNACT1):c.1366A>G (p.Lys456Glu)	CSGALNACT1 (K456E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2161347	NM_001354483.2(CSGALNACT1):c.184C>T (p.Gln62Ter)	CSGALNACT1 (Q62*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic

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