GNPDA1[gene] - ClinVar

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Items: 29

	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	LOC129994992, LOC129994993 +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 58388	GRCh38/hg38 5q31.2-32(chr5:138871137-145812309)x1	ANKHD1, ANKHD1-DT +377 more	Copy number loss	See cases	GPathogenic
Select item 147816	GRCh38/hg38 5q31.3(chr5:140963199-142322798)x1	ARAP3, DELE1 +123 more	Copy number loss	See cases	GUncertain significance
Select item 150685	GRCh38/hg38 5q31.3-32(chr5:141089988-149530678)x3	ABLIM3, ADRB2 +313 more	Copy number gain	See cases	GPathogenic
Select item 2218701	NM_005471.5(GNPDA1):c.700C>T (p.Arg234Cys)	GNPDA1 (R234C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404101	NM_005471.5(GNPDA1):c.647T>C (p.Ile216Thr)	GNPDA1 (I216T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100679	NM_005471.5(GNPDA1):c.613G>C (p.Gly205Arg)	GNPDA1 (G205R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100678	NM_005471.5(GNPDA1):c.580A>G (p.Met194Val)	GNPDA1 (M194V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282124	NM_005471.5(GNPDA1):c.563T>C (p.Val188Ala)	GNPDA1 (V188A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100677	NM_005471.5(GNPDA1):c.461T>A (p.Val154Glu)	GNPDA1 (V154E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100676	NM_005471.5(GNPDA1):c.329A>C (p.Asn110Thr)	GNPDA1 (N110T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251688	NM_005471.5(GNPDA1):c.320T>C (p.Leu107Pro)	GNPDA1 (L107P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2489089	NM_005471.5(GNPDA1):c.311C>T (p.Thr104Ile)	GNPDA1 (T104I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2608661	NM_005471.5(GNPDA1):c.289A>G (p.Ile97Val)	GNPDA1 (I97V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602265	NM_005471.5(GNPDA1):c.266T>C (p.Met89Thr)	GNPDA1 (M89T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100675	NM_005471.5(GNPDA1):c.245C>T (p.Pro82Leu)	GNPDA1 (P82L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605679	NM_005471.5(GNPDA1):c.77A>G (p.Gln26Arg)	GNPDA1 (Q26R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 687529	GRCh37/hg19 5q31.3-32(chr5:140424333-148985999)x3	ABLIM3, ADRB2 +92 more	Copy number gain	not provided	GUncertain significance
Select item 635930	Single allele	C5orf24, C5orf34 +600 more	Deletion	Neurodevelopmental disorder	GUncertain significance
Select item 563111	GRCh37/hg19 5q31.2-31.3(chr5:139147238-141540491)x1	PCDHA13, PCDHGB5 +92 more	Copy number loss	not provided	GPathogenic
Select item 457359	NC_000005.9:g.(?_86400000)_(154000000_?)del	CCDC69, CCNH +385 more	Deletion	Familial adenomatous polyposis 1 +1 more	GPathogenic
Select item 442431	GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1	DHFR, DHX29 +738 more	Copy number loss	See cases	GPathogenic
Select item 442272	GRCh37/hg19 5q31.3-32(chr5:141113273-149154835)x1	ABLIM3, ADRB2 +48 more	Copy number loss	See cases	GPathogenic
Select item 441920	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 441919	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 425542	GRCh37/hg19 5q15-35.3(chr5:94844077-178830410)x3	ARL10, ARL14EPL +511 more	Copy number gain	not provided	GLikely benign
Select item 394550	GRCh37/hg19 5q21.3-35.3(chr5:106716357-180687338)x3	HRH2, HSD17B4 +520 more	Copy number gain	See cases	GPathogenic

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Items: 29