GDAP2[gene] - ClinVar

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Items: 53

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154886	GRCh38/hg38 1p21.1-12(chr1:104325484-119977655)x3	LOC129388571, LOC129388572 +563 more	Copy number gain	See cases	GPathogenic
Select item 58084	GRCh38/hg38 1p13.3-12(chr1:109756630-118650204)x3	ADORA3, AHCYL1 +391 more	Copy number gain	See cases	GPathogenic
Select item 58088	GRCh38/hg38 1p13.1-12(chr1:116059621-120130051)x3	ADAM30, ATP1A1 +140 more	Copy number gain	See cases	GPathogenic
Select item 57384	GRCh38/hg38 1p13.1-12(chr1:116679122-119290029)x1	CD101, CD101-AS1 +67 more	Copy number loss	See cases	GPathogenic
Select item 2639032	NM_017686.4(GDAP2):c.1467A>C (p.Thr489=)	GDAP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3038943	NM_017686.4(GDAP2):c.1465A>G (p.Thr489Ala)	GDAP2 (T489A)	Single nucleotide variant (missense variant)	GDAP2-related disorder	GBenign
Select item 3099196	NM_017686.4(GDAP2):c.1317T>A (p.Phe439Leu)	GDAP2 (F439L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 624619	NM_017686.4(GDAP2):c.1305dup (p.Ser436fs)	GDAP2 (S436fs)	Duplication (frameshift variant)	Spinocerebellar ataxia, autosomal recessive 27	GPathogenic
Select item 3055753	NM_017686.4(GDAP2):c.1303-10T>C	GDAP2	Single nucleotide variant (intron variant)	GDAP2-related disorder	GBenign
Select item 2639033	NM_017686.4(GDAP2):c.1302+3A>G	GDAP2	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 3099195	NM_017686.4(GDAP2):c.1295G>A (p.Arg432His)	GDAP2 (R432H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370158	NM_017686.4(GDAP2):c.1294C>T (p.Arg432Cys)	GDAP2 (R432C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3065746	NM_017686.4(GDAP2):c.1291T>G (p.Phe431Val)	GDAP2 (F431V)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia, autosomal recessive 27	GUncertain significance
Select item 2481777	NM_017686.4(GDAP2):c.1274A>G (p.Tyr425Cys)	GDAP2 (Y425C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099194	NM_017686.4(GDAP2):c.1253A>G (p.Lys418Arg)	GDAP2 (K418R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 624620	NM_017686.4(GDAP2):c.1198_1199insG (p.His400fs)	GDAP2 (H400fs)	Insertion (frameshift variant)	Spinocerebellar ataxia, autosomal recessive 27	GPathogenic
Select item 2275202	NM_017686.4(GDAP2):c.1189G>A (p.Glu397Lys)	GDAP2 (E397K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2557532	NM_017686.4(GDAP2):c.1155G>T (p.Glu385Asp)	GDAP2 (E385D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217976	NM_017686.4(GDAP2):c.1117T>C (p.Tyr373His)	GDAP2 (Y373H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480578	NM_017686.4(GDAP2):c.1114T>G (p.Leu372Val)	GDAP2 (L372V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3064725	NM_017686.4(GDAP2):c.1107+1G>T	GDAP2	Single nucleotide variant (splice donor variant)	Spinocerebellar ataxia, autosomal recessive 27	GLikely pathogenic
Select item 2636870	NM_017686.4(GDAP2):c.1048C>T (p.Arg350Ter)	GDAP2 (R350*)	Single nucleotide variant (nonsense)	GDAP2-related disorder	GLikely pathogenic
Select item 2050821	NM_017686.4(GDAP2):c.1030+1G>T	GDAP2	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 3099200	NM_017686.4(GDAP2):c.970T>C (p.Cys324Arg)	GDAP2 (C324R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393682	NM_017686.4(GDAP2):c.962G>A (p.Arg321His)	GDAP2 (R321H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 624618	NM_017686.4(GDAP2):c.946C>T (p.Gln316Ter)	GDAP2 (Q316*)	Single nucleotide variant (nonsense)	Spinocerebellar ataxia, autosomal recessive 27	GPathogenic
Select item 3099199	NM_017686.4(GDAP2):c.848G>A (p.Gly283Asp)	GDAP2 (G283D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475393	NM_017686.4(GDAP2):c.805G>A (p.Glu269Lys)	GDAP2 (E269K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3040307	NM_017686.4(GDAP2):c.759A>G (p.Arg253=)	GDAP2	Single nucleotide variant (synonymous variant)	GDAP2-related disorder	GLikely benign
Select item 2060050	NM_017686.4(GDAP2):c.757C>T (p.Arg253Ter)	GDAP2 (R253*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 3040411	NM_017686.4(GDAP2):c.753T>C (p.Pro251=)	GDAP2	Single nucleotide variant (synonymous variant)	GDAP2-related disorder	GLikely benign
Select item 3099198	NM_017686.4(GDAP2):c.745G>C (p.Val249Leu)	GDAP2 (V249L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3234416	NM_017686.4(GDAP2):c.704C>T (p.Pro235Leu)	GDAP2 (P235L)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2272527	NM_017686.4(GDAP2):c.638G>A (p.Gly213Asp)	GDAP2 (G213D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3037617	NM_017686.4(GDAP2):c.561C>G (p.Arg187=)	GDAP2	Single nucleotide variant (synonymous variant)	GDAP2-related disorder	GBenign
Select item 2473215	NM_017686.4(GDAP2):c.497T>A (p.Phe166Tyr)	GDAP2 (F166Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2228206	NM_017686.4(GDAP2):c.407G>A (p.Arg136His)	GDAP2 (R136H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275549	NM_017686.4(GDAP2):c.355A>C (p.Asn119His)	GDAP2 (N119H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1050554	NM_017686.4(GDAP2):c.343A>G (p.Thr115Ala)	GDAP2 (T115A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3026541	NM_017686.4(GDAP2):c.339A>G (p.Lys113=)	GDAP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3037489	NM_017686.4(GDAP2):c.264T>C (p.Ser88=)	GDAP2	Single nucleotide variant (synonymous variant)	GDAP2-related disorder	GBenign
Select item 2411590	NM_017686.4(GDAP2):c.154G>A (p.Val52Ile)	GDAP2 (V52I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2476462	NM_017686.4(GDAP2):c.140T>A (p.Leu47His)	GDAP2 (L47H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351364	NM_017686.4(GDAP2):c.68G>A (p.Cys23Tyr)	GDAP2 (C23Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3034487	NM_017686.4(GDAP2):c.66A>G (p.Ser22=)	GDAP2	Single nucleotide variant (synonymous variant)	GDAP2-related disorder	GBenign
Select item 2398127	NM_017686.4(GDAP2):c.40G>A (p.Asp14Asn)	GDAP2 (D14N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2685820	GRCh37/hg19 1p12(chr1:118103451-118847256)x3	GDAP2, SPAG17 +3 more	Copy number gain	not provided	GUncertain significance
Select item 1527270	GRCh37/hg19 1p13.3-11.2(chr1:111647582-121343783)	NHLH2, NOTCH2 +78 more	Copy number gain	not specified	GPathogenic
Select item 1047871	GRCh37/hg19 1p21.2-12(chr1:102021465-119737478)	ATP1A1, RAP1A +131 more	Copy number loss	Seizure +1 more	GPathogenic
Select item 979269	GRCh37/hg19 1p12(chr1:118445052-118676705)x3	WDR3, SPAG17 +1 more	Copy number gain	not provided	GLikely benign
Select item 443336	GRCh37/hg19 1p22.1-11.2(chr1:93837992-121343783)x3	ABCA4, ABCD3 +177 more	Copy number gain	See cases	GPathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	BCAS2, CNTN2 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	FAM76A, FAM78B +2014 more	Copy number gain	See cases	GPathogenic

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Items: 53