3340[Gene ID] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59672	GRCh38/hg38 5q21.3-33.2(chr5:106619588-156124387)x1	ABLIM3, ACSL6 +1672 more	Copy number loss	See cases	GPathogenic
Select item 149858	GRCh38/hg38 5q23.3-33.2(chr5:129847794-153353546)x3	LOC129995052, LOC129995053 +1157 more	Copy number gain	See cases	GPathogenic
Select item 57483	GRCh38/hg38 5q23.3-33.2(chr5:130860928-155321811)x3	ABLIM3, ACSL6 +1218 more	Copy number gain	See cases	GPathogenic
Select item 58118	GRCh38/hg38 5q32-35.3(chr5:149714592-181272151)x3	ADAM19, ADAMTS2 +1166 more	Copy number gain	See cases	GPathogenic
Select item 154695	GRCh38/hg38 5q32-33.1(chr5:150356455-150688333)x3	CD74, LOC112997569 +43 more	Copy number gain	See cases	GUncertain significance
Select item 1226934	NM_001543.5(NDST1):c.-15G>T	NDST1	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 3031929	NM_001543.5(NDST1):c.-3A>C	NDST1	Single nucleotide variant (5 prime UTR variant)	NDST1-related condition	GLikely benign
Select item 1712773	NM_001543.5(NDST1):c.23G>A (p.Arg8Gln)	NDST1 (R8Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2311476	NM_001543.5(NDST1):c.27G>C (p.Arg9Ser)	NDST1 (R9S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 452070	NM_001543.5(NDST1):c.39C>G (p.His13Gln)	NDST1 (H13Q)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal recessive 46 +1 more	GUncertain significance
Select item 975759	NM_001543.5(NDST1):c.40G>A (p.Val14Met)	NDST1 (V14M)	Single nucleotide variant (missense variant)	Intellectual disability	GLikely benign
Select item 2459174	NM_001543.5(NDST1):c.47C>T (p.Pro16Leu)	NDST1 (P16L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 721689	NM_001543.5(NDST1):c.48G>A (p.Pro16=)	NDST1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 435940	NM_001543.5(NDST1):c.73A>G (p.Ile25Val)	NDST1 (I25V)	Single nucleotide variant (missense variant)	not specified +1 more	GLikely benign
Select item 435958	NM_001543.5(NDST1):c.101C>G (p.Ser34Trp)	NDST1 (S34W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2560242	NM_001543.5(NDST1):c.142T>C (p.Ser48Pro)	NDST1 (S48P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 435941	NM_001543.5(NDST1):c.143C>G (p.Ser48Trp)	NDST1 (S48W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 435942	NM_001543.5(NDST1):c.144G>A (p.Ser48=)	NDST1	Single nucleotide variant (synonymous variant)	NDST1-related condition +1 more	GLikely benign
Select item 1548683	NM_001543.5(NDST1):c.156C>T (p.Pro52=)	NDST1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1687702	NM_001543.5(NDST1):c.161C>G (p.Pro54Arg)	NDST1 (P54R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 723268	NM_001543.5(NDST1):c.168C>T (p.Cys56=)	NDST1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1314016	NM_001543.5(NDST1):c.169G>A (p.Gly57Arg)	NDST1 (G57R)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 978181	NM_001543.5(NDST1):c.176C>G (p.Pro59Arg)	NDST1 (P59R)	Single nucleotide variant (missense variant)	Intellectual disability	GUncertain significance
Select item 2462482	NM_001543.5(NDST1):c.179C>T (p.Pro60Leu)	NDST1 (P60L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1308528	NM_001543.5(NDST1):c.188C>T (p.Ala63Val)	NDST1 (A63V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2166526	NM_001543.5(NDST1):c.197G>A (p.Arg66His)	NDST1 (R66H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2888435	NM_001543.5(NDST1):c.213G>A (p.Lys71=)	NDST1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1712801	NM_001543.5(NDST1):c.227C>T (p.Ala76Val)	NDST1 (A76V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 435943	NM_001543.5(NDST1):c.239G>A (p.Arg80His)	NDST1 (R80H)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 1012534	NM_001543.5(NDST1):c.249G>A (p.Pro83=)	NDST1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 720794	NM_001543.5(NDST1):c.276C>T (p.Leu92=)	NDST1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2892075	NM_001543.5(NDST1):c.281C>T (p.Ser94Leu)	NDST1 (S94L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 747987	NM_001543.5(NDST1):c.303G>A (p.Val101=)	NDST1	Single nucleotide variant (synonymous variant)	NDST1-related condition +1 more	GLikely benign
Select item 435959	NM_001543.5(NDST1):c.323G>A (p.Arg108His)	NDST1 (R108H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 520649	NM_001543.5(NDST1):c.334C>T (p.Arg112Cys)	NDST1 (R112C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 225420	NM_001543.5(NDST1):c.340G>T (p.Glu114Ter)	NDST1 (E114*)	Single nucleotide variant (nonsense)	Intellectual disability, autosomal recessive 46	GUncertain significance
Select item 2662702	NM_001543.5(NDST1):c.347C>T (p.Ala116Val)	NDST1 (A116V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2079141	NM_001543.5(NDST1):c.348G>A (p.Ala116=)	NDST1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2334824	NM_001543.5(NDST1):c.383A>G (p.Lys128Arg)	NDST1 (K128R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1027937	NM_001543.5(NDST1):c.388C>T (p.Arg130Cys)	NDST1 (R130C)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal recessive 46	GUncertain significance
Select item 1027938	NM_001543.5(NDST1):c.389G>A (p.Arg130His)	NDST1 (R130H)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal recessive 46	GUncertain significance
Select item 2314515	NM_001543.5(NDST1):c.395G>A (p.Arg132His)	NDST1 (R132H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 763649	NM_001543.5(NDST1):c.444C>T (p.Asp148=)	NDST1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2655933	NM_001543.5(NDST1):c.486C>T (p.Tyr162=)	NDST1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2189019	NM_001543.5(NDST1):c.513+4C>A	NDST1	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 1579057	NM_001543.5(NDST1):c.514-15C>G	NDST1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 717213	NM_001543.5(NDST1):c.540G>A (p.Ala180=)	NDST1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 435944	NM_001543.5(NDST1):c.600C>T (p.Ile200=)	NDST1	Single nucleotide variant (synonymous variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 732037	NM_001543.5(NDST1):c.624C>T (p.Tyr208=)	NDST1	Single nucleotide variant (synonymous variant)	NDST1-related condition +1 more	GLikely benign
Select item 435945	NM_001543.5(NDST1):c.629C>T (p.Thr210Met)	NDST1 (T210M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3030312	NM_001543.5(NDST1):c.633A>G (p.Arg211=)	NDST1	Single nucleotide variant (synonymous variant)	NDST1-related condition	GLikely benign
Select item 1302756	NM_001543.5(NDST1):c.681T>G (p.Val227=)	NDST1	Single nucleotide variant (synonymous variant)	Intellectual disability, autosomal recessive 46 +1 more	GBenign
Select item 1959281	NM_001543.5(NDST1):c.684C>T (p.Phe228=)	NDST1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 435960	NM_001543.5(NDST1):c.730C>T (p.Arg244Cys)	NDST1 (R244C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1302757	NM_001543.5(NDST1):c.750A>G (p.Pro250=)	NDST1	Single nucleotide variant (synonymous variant)	Intellectual disability, autosomal recessive 46 +1 more	GBenign
Select item 723829	NM_001543.5(NDST1):c.760G>A (p.Ala254Thr)	NDST1 (A254T)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2123913	NM_001543.5(NDST1):c.765C>A (p.Asp255Glu)	NDST1 (D255E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1579197	NM_001543.5(NDST1):c.765C>T (p.Asp255=)	NDST1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2553227	NM_001543.5(NDST1):c.766G>A (p.Ala256Thr)	NDST1 (A256T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2282275	NM_001543.5(NDST1):c.769G>A (p.Gly257Ser)	NDST1 (G257S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 723830	NM_001543.5(NDST1):c.777T>C (p.His259=)	NDST1	Single nucleotide variant (synonymous variant)	NDST1-related condition +1 more	GBenign/Likely benign
Select item 1600497	NM_001543.5(NDST1):c.789C>T (p.His263=)	NDST1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2211645	NM_001543.5(NDST1):c.790G>A (p.Ala264Thr)	NDST1 (A264T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 435946	NM_001543.5(NDST1):c.817C>T (p.His273Tyr)	NDST1 (H273Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 713911	NM_001543.5(NDST1):c.822C>T (p.Asp274=)	NDST1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1337251	NM_001543.5(NDST1):c.828C>A (p.Ile276=)	NDST1	Single nucleotide variant (synonymous variant)	not specified	GUncertain significance
Select item 741326	NM_001543.5(NDST1):c.834C>T (p.Arg278=)	NDST1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 744355	NM_001543.5(NDST1):c.870C>T (p.His290=)	NDST1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1337227	NM_001543.5(NDST1):c.882C>T (p.Phe294=)	NDST1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 426984	NM_001543.5(NDST1):c.883G>A (p.Val295Met)	NDST1 (V295M)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal recessive 46 +1 more	GUncertain significance
Select item 1564730	NM_001543.5(NDST1):c.891C>T (p.Ala297=)	NDST1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1810571	NM_001543.5(NDST1):c.905C>T (p.Thr302Met)	NDST1 (T302M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1982788	NM_001543.5(NDST1):c.914G>A (p.Arg305His)	NDST1 (R305H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 717699	NM_001543.5(NDST1):c.927A>G (p.Pro309=)	NDST1	Single nucleotide variant (synonymous variant)	Intellectual disability, autosomal recessive 46 +1 more	GBenign/Likely benign
Select item 715605	NM_001543.5(NDST1):c.966C>T (p.Phe322=)	NDST1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1942101	NM_001543.5(NDST1):c.967G>A (p.Val323Met)	NDST1 (V323M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3064174	NM_001543.5(NDST1):c.985C>T (p.Arg329Cys)	NDST1 (R329C)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal recessive 46	GUncertain significance
Select item 2068978	NM_001543.5(NDST1):c.1008+4T>A	NDST1	Single nucleotide variant (intron variant)	not provided +1 more	GUncertain significance
Select item 1581567	NM_001543.5(NDST1):c.1029C>T (p.Asn343=)	NDST1	Single nucleotide variant (synonymous variant)	NDST1-related condition +1 more	GBenign
Select item 1557073	NM_001543.5(NDST1):c.1039G>A (p.Ala347Thr)	NDST1 (A347T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 1394469	NM_001543.5(NDST1):c.1057A>C (p.Thr353Pro)	NDST1 (T353P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2196013	NM_001543.5(NDST1):c.1062C>T (p.Phe354=)	NDST1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1599953	NM_001543.5(NDST1):c.1096+20C>T	NDST1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1321864	NM_001543.5(NDST1):c.1097-28T>C	NDST1	Single nucleotide variant (intron variant)	Intellectual disability, autosomal recessive 46	GBenign
Select item 2961003	NM_001543.5(NDST1):c.1097-14del	NDST1	Deletion (intron variant)	not provided	GLikely benign
Select item 1336300	NM_001543.5(NDST1):c.1113C>T (p.Asp371=)	NDST1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2367541	NM_001543.5(NDST1):c.1114G>T (p.Ala372Ser)	NDST1 (A372S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 435947	NM_001543.5(NDST1):c.1137G>A (p.Ser379=)	NDST1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1564271	NM_001543.5(NDST1):c.1251+11T>C	NDST1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1636262	NM_001543.5(NDST1):c.1252-16G>T	NDST1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2271301	NM_001543.5(NDST1):c.1252-4C>G	NDST1	Single nucleotide variant (intron variant)	Inborn genetic diseases	GLikely benign
Select item 3052948	NM_001543.5(NDST1):c.1306G>A (p.Val436Met)	NDST1 (V436M)	Single nucleotide variant (missense variant)	NDST1-related condition	GUncertain significance
Select item 435948	NM_001543.5(NDST1):c.1314C>T (p.Pro438=)	NDST1	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 2970942	NM_001543.5(NDST1):c.1323G>A (p.Val441=)	NDST1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2985520	NM_001543.5(NDST1):c.1327C>T (p.Leu443=)	NDST1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 435949	NM_001543.5(NDST1):c.1332C>T (p.Tyr444=)	NDST1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 547990	NM_001543.5(NDST1):c.1360C>T (p.Arg454Cys)	NDST1 (R454C)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal recessive 46	GUncertain significance
Select item 2225643	NM_001543.5(NDST1):c.1361G>A (p.Arg454His)	NDST1 (R454H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2655934	NM_001543.5(NDST1):c.1383C>T (p.Tyr461=)	NDST1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 707907	NM_001543.5(NDST1):c.1392G>A (p.Leu464=)	NDST1	Single nucleotide variant (synonymous variant)	not provided	GBenign

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