8443[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155660	GRCh38/hg38 1q32.2-44(chr1:207346642-248930485)x3	ABCB10, ACBD3 +1428 more	Copy number gain	See cases	GPathogenic
Select item 58116	GRCh38/hg38 1q32.2-44(chr1:209646207-248931113)x3	LOC120908923, LOC120947224 +1352 more	Copy number gain	See cases	GPathogenic
Select item 145652	GRCh38/hg38 1q32.2-44(chr1:209963625-248918469)x3	ABCB10, ACBD3 +1326 more	Copy number gain	See cases	GPathogenic
Select item 57302	GRCh38/hg38 1q32.3-44(chr1:214023812-248918469)x3	LOC129932855, LOC129932856 +1168 more	Copy number gain	See cases	GPathogenic
Select item 57010	GRCh38/hg38 1q41-44(chr1:223347693-248918469)x3	TARBP1, TBCE +968 more	Copy number gain	See cases	GPathogenic
Select item 146575	GRCh38/hg38 1q41-44(chr1:223815147-248918469)x3	LINC02765, LINC02768 +955 more	Copy number gain	See cases	GPathogenic
Select item 58133	GRCh38/hg38 1q41-44(chr1:223828500-248891309)x3	LOC440742, LYPD8 +955 more	Copy number gain	See cases	GPathogenic
Select item 58135	GRCh38/hg38 1q41-44(chr1:223887780-248891309)x3	ABCB10, ACBD3 +953 more	Copy number gain	See cases	GPathogenic
Select item 148701	GRCh38/hg38 1q42.11-44(chr1:224022862-248918469)x3	LOC129932825, LOC129932826 +952 more	Copy number gain	See cases	GPathogenic
Select item 58137	GRCh38/hg38 1q42.11-44(chr1:224096488-248918469)x3	LOC129932658, LOC129932659 +950 more	Copy number gain	See cases	GPathogenic
Select item 154381	GRCh38/hg38 1q42.12-44(chr1:225438480-248787200)x3	LOC126806053, LOC126806054 +870 more	Copy number gain	See cases	GPathogenic
Select item 146517	GRCh38/hg38 1q42.12-42.2(chr1:226185124-232872488)x1	ABCB10, ACBD3 +313 more	Copy number loss	See cases	GPathogenic
Select item 147487	GRCh38/hg38 1q42.13-44(chr1:229022909-248918469)x3	ABCB10, ACTA1 +656 more	Copy number gain	See cases	GPathogenic
Select item 57819	GRCh38/hg38 1q42.13-42.2(chr1:229883805-231517553)x3	AGT, ARV1 +66 more	Copy number gain	See cases	GUncertain significance
Select item 57387	GRCh38/hg38 1q42.13-44(chr1:230106271-243677283)x1	ACTN2, AGT +378 more	Copy number loss	See cases	GPathogenic
Select item 2579289	GRCh38/hg38 1q42.13-44(chr1:230178121-243646135)x1	ACTN2, AGT +369 more	Copy number loss	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2	GPathogenic
Select item 57820	GRCh38/hg38 1q42.13-42.2(chr1:230489657-231243203)x3	AGT, ARV1 +36 more	Copy number gain	See cases	GUncertain significance
Select item 1223737	NC_000001.11:g.231240866G>A	FSAF1, GNPAT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1182315	NC_000001.11:g.231240950C>G	FSAF1, GNPAT +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1266325	NC_000001.11:g.231241060G>C	FSAF1, GNPAT +1 more (L28V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 875921	NM_014236.4(GNPAT):c.-153A>C	GNPAT, LOC129932767	Single nucleotide variant (5 prime UTR variant)	Rhizomelic chondrodysplasia punctata type 2	GUncertain significance
Select item 296102	NM_014236.4(GNPAT):c.-147G>C	GNPAT, LOC129932767	Single nucleotide variant (5 prime UTR variant)	Rhizomelic chondrodysplasia punctata type 2	GUncertain significance
Select item 296103	NM_014236.4(GNPAT):c.-145G>A	GNPAT, LOC129932767	Single nucleotide variant (5 prime UTR variant)	Rhizomelic chondrodysplasia punctata type 2 +1 more	GBenign/Likely benign
Select item 296104	NM_014236.4(GNPAT):c.-121C>T	GNPAT	Single nucleotide variant (5 prime UTR variant)	Rhizomelic chondrodysplasia punctata type 2	GUncertain significance
Select item 296105	NM_014236.4(GNPAT):c.-84C>T	GNPAT	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GBenign/Likely benign
Select item 876914	NM_014236.4(GNPAT):c.-82G>T	GNPAT	Single nucleotide variant (5 prime UTR variant)	Rhizomelic chondrodysplasia punctata type 2	GUncertain significance
Select item 296106	NM_014236.4(GNPAT):c.-54A>G	GNPAT	Single nucleotide variant (5 prime UTR variant)	Rhizomelic chondrodysplasia punctata type 2	GUncertain significance
Select item 625272	NM_014236.4(GNPAT):c.-47C>T	GNPAT	Single nucleotide variant (5 prime UTR variant)	not provided	Gnot provided
Select item 296107	NM_014236.4(GNPAT):c.-47C>A	GNPAT	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GUncertain significance
Select item 296108	NM_014236.4(GNPAT):c.-44C>T	GNPAT	Single nucleotide variant (5 prime UTR variant)	not provided +2 more	GBenign
Select item 296109	NM_014236.4(GNPAT):c.-6C>T	GNPAT	Single nucleotide variant (5 prime UTR variant)	Rhizomelic chondrodysplasia punctata type 2	GUncertain significance
Select item 1508398	NM_014236.4(GNPAT):c.23A>G (p.Asn8Ser)	GNPAT (N8S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2675931	NM_014236.4(GNPAT):c.26_27del (p.Ser9fs)	GNPAT (S9fs)	Microsatellite (frameshift variant)	Rhizomelic chondrodysplasia punctata type 2	GLikely pathogenic
Select item 260361	NM_014236.4(GNPAT):c.26C>T (p.Ser9Phe)	GNPAT (S9F)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 3014844	NM_014236.4(GNPAT):c.30T>C (p.Tyr10=)	GNPAT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1354439	NM_014236.4(GNPAT):c.37G>T (p.Val13Phe)	GNPAT (V13F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2916574	NM_014236.4(GNPAT):c.42C>G (p.Gly14=)	GNPAT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1514054	NM_014236.4(GNPAT):c.51_56del (p.Pro18_Ser19del)	GNPAT	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 1382464	NM_014236.4(GNPAT):c.56G>C (p.Ser19Thr)	GNPAT (S19T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 296110	NM_014236.4(GNPAT):c.57C>T (p.Ser19=)	GNPAT	Single nucleotide variant (synonymous variant)	Rhizomelic chondrodysplasia punctata type 2 +1 more	GConflicting classifications of pathogenicity
Select item 2967280	NM_014236.4(GNPAT):c.63C>T (p.Val21=)	GNPAT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 716279	NM_014236.4(GNPAT):c.65T>C (p.Val22Ala)	GNPAT (V22A)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2902955	NM_014236.4(GNPAT):c.66G>A (p.Val22=)	GNPAT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2820904	NM_014236.4(GNPAT):c.66G>T (p.Val22=)	GNPAT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2805825	NM_014236.4(GNPAT):c.69C>T (p.Leu23=)	GNPAT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2915364	NM_014236.4(GNPAT):c.78+10dup	GNPAT	Duplication (intron variant)	not provided	GLikely benign
Select item 2876885	NM_014236.4(GNPAT):c.78+7G>A	GNPAT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2144310	NM_014236.4(GNPAT):c.78+8C>T	GNPAT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2826024	NM_014236.4(GNPAT):c.78+14G>A	GNPAT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2969791	NM_014236.4(GNPAT):c.78+19G>A	GNPAT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1197372	NM_014236.4(GNPAT):c.78+225C>T	GNPAT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1182615	NM_014236.4(GNPAT):c.79-237A>G	GNPAT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1211340	NM_014236.4(GNPAT):c.79-109A>G	GNPAT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1244833	NM_014236.4(GNPAT):c.79-95T>A	GNPAT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1604696	NM_014236.4(GNPAT):c.79-8A>T	GNPAT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1998059	NM_014236.4(GNPAT):c.79-7T>C	GNPAT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2798044	NM_014236.4(GNPAT):c.79-6C>T	GNPAT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2913058	NM_014236.4(GNPAT):c.99T>C (p.Asp33=)	GNPAT	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1304770	NM_014236.4(GNPAT):c.140A>C (p.Asp47Ala)	GNPAT (D47A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1441553	NM_014236.4(GNPAT):c.154A>G (p.Met52Val)	GNPAT (M52V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2954696	NM_014236.4(GNPAT):c.159A>G (p.Lys53=)	GNPAT	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 784703	NM_014236.4(GNPAT):c.165C>T (p.Tyr55=)	GNPAT	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2813820	NM_014236.4(GNPAT):c.177C>T (p.Val59=)	GNPAT	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1352778	NM_014236.4(GNPAT):c.179A>G (p.Tyr60Cys)	GNPAT (Y60C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2994164	NM_014236.4(GNPAT):c.180T>C (p.Tyr60=)	GNPAT	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2675935	NM_014236.4(GNPAT):c.180T>A (p.Tyr60Ter)	GNPAT (Y60*)	Single nucleotide variant (nonsense +1 more)	Rhizomelic chondrodysplasia punctata type 2	GLikely pathogenic
Select item 2844987	NM_014236.4(GNPAT):c.210T>C (p.Asp70=)	GNPAT	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2028335	NM_014236.4(GNPAT):c.219T>C (p.Cys73=)	GNPAT	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2178135	NM_014236.4(GNPAT):c.226C>T (p.Leu76Phe)	GNPAT (L76F)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2715017	NM_014236.4(GNPAT):c.249T>C (p.Tyr83=)	GNPAT	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1432302	NM_014236.4(GNPAT):c.253A>C (p.Ile85Leu)	GNPAT (I85L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1413858	NM_014236.4(GNPAT):c.253A>G (p.Ile85Val)	GNPAT (I85V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3241715	NM_014236.4(GNPAT):c.256A>T (p.Lys86Ter)	GNPAT (K86*)	Single nucleotide variant (nonsense +1 more)	Rhizomelic chondrodysplasia punctata type 2	GLikely pathogenic
Select item 2834456	NM_014236.4(GNPAT):c.261+7G>C	GNPAT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2877083	NM_014236.4(GNPAT):c.261+11C>T	GNPAT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1576279	NM_014236.4(GNPAT):c.261+11C>A	GNPAT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2866838	NM_014236.4(GNPAT):c.261+12C>T	GNPAT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2700670	NM_014236.4(GNPAT):c.261+13C>G	GNPAT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2729603	NM_014236.4(GNPAT):c.261+16T>C	GNPAT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2019511	NM_014236.4(GNPAT):c.261+19A>C	GNPAT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1247908	NM_014236.4(GNPAT):c.261+84T>C	GNPAT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1301104	NM_014236.4(GNPAT):c.261+206_261+212dup	GNPAT	Duplication (intron variant)	not provided	GLikely benign
Select item 1208178	NM_014236.4(GNPAT):c.261+249C>G	GNPAT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1200036	NM_014236.4(GNPAT):c.262-244T>A	GNPAT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1274329	NM_014236.4(GNPAT):c.262-136_262-135insAT	GNPAT	Insertion (intron variant)	not provided	GBenign
Select item 1210527	NM_014236.4(GNPAT):c.262-41A>G	GNPAT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2878896	NM_014236.4(GNPAT):c.262-17T>C	GNPAT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2758723	NM_014236.4(GNPAT):c.262-17T>G	GNPAT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 782802	NM_014236.4(GNPAT):c.262-7C>T	GNPAT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2749358	NM_014236.4(GNPAT):c.270G>A (p.Lys90=)	GNPAT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 296111	NM_014236.4(GNPAT):c.278T>G (p.Leu93Arg)	GNPAT (L93R +1 more)	Single nucleotide variant (missense variant)	Rhizomelic chondrodysplasia punctata type 2	GUncertain significance
Select item 2231780	NM_014236.4(GNPAT):c.281A>C (p.Gln94Pro)	GNPAT (Q33P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 296112	NM_014236.4(GNPAT):c.286G>T (p.Val96Leu)	GNPAT (V96L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 587463	NM_014236.4(GNPAT):c.289G>A (p.Asp97Asn)	GNPAT (D97N +1 more)	Single nucleotide variant (missense variant)	Rhizomelic chondrodysplasia punctata type 2	GUncertain significance
Select item 3241719	NM_014236.4(GNPAT):c.290_291del (p.Asp97fs)	GNPAT (D36fs +1 more)	Deletion (frameshift variant)	Rhizomelic chondrodysplasia punctata type 2	GLikely pathogenic
Select item 2771536	NM_014236.4(GNPAT):c.297C>T (p.Leu99=)	GNPAT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1324493	NM_014236.4(GNPAT):c.298C>T (p.Arg100Ter)	GNPAT (R100* +1 more)	Single nucleotide variant (nonsense)	Rhizomelic chondrodysplasia punctata type 2	GLikely pathogenic
Select item 2203002	NM_014236.4(GNPAT):c.299G>A (p.Arg100Gln)	GNPAT (R39Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1467411	NM_014236.4(GNPAT):c.301G>A (p.Glu101Lys)	GNPAT (E40K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1625962	NM_014236.4(GNPAT):c.303G>A (p.Glu101=)	GNPAT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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