ClinVar for Gene (Select 81544) - ClinVar

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Links from Gene

Items: 63

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3281176	NM_030792.8(GDPD5):c.1138G>A (p.Val380Met)	GDPD5 (V135M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3281175	NM_030792.8(GDPD5):c.625G>A (p.Ala209Thr)	GDPD5 (A71T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3281174	NM_030792.8(GDPD5):c.1209G>T (p.Lys403Asn)	GDPD5 (K265N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3281173	NM_030792.8(GDPD5):c.1433C>T (p.Ser478Phe)	GDPD5 (S340F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3281172	NM_030792.8(GDPD5):c.1219G>A (p.Gly407Ser)	GDPD5 (G407S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3281171	NM_030792.8(GDPD5):c.1403C>T (p.Ala468Val)	GDPD5 (A330V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099316	NM_030792.8(GDPD5):c.94C>T (p.Arg32Cys)	GDPD5 (R32C)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3099314	NM_030792.8(GDPD5):c.562C>G (p.Arg188Gly)	GDPD5 (R188G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3099312	NM_030792.8(GDPD5):c.467C>T (p.Ser156Phe)	GDPD5 (S156F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3099311	NM_030792.8(GDPD5):c.340G>A (p.Val114Met)	GDPD5 (V114M)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3099310	NM_030792.8(GDPD5):c.1255G>A (p.Ala419Thr)	GDPD5 (A174T +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3099309	NM_030792.8(GDPD5):c.1091G>A (p.Arg364Gln)	GDPD5 (R364Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2684646	GRCh37/hg19 11q12.2-13.5(chr11:59923608-76272324)x3	FOLR2, RAB3IL1 +362 more	Copy number gain	not provided	GPathogenic
Select item 2642158	NM_030792.8(GDPD5):c.1509C>T (p.Ala503=)	GDPD5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2642157	NM_030792.8(GDPD5):c.1545C>T (p.Phe515=)	GDPD5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2619437	NM_030792.8(GDPD5):c.1540A>G (p.Ile514Val)	GDPD5 (I376V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611822	NM_030792.8(GDPD5):c.419C>T (p.Ser140Leu)	GDPD5 (S2L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2611571	NM_030792.8(GDPD5):c.91C>G (p.Gln31Glu)	GDPD5 (Q31E)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2599888	NM_030792.8(GDPD5):c.793A>G (p.Ile265Val)	GDPD5 (I127V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594553	NM_030792.8(GDPD5):c.1471A>G (p.Met491Val)	GDPD5 (M491V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2570374	NM_030792.8(GDPD5):c.1562G>A (p.Arg521His)	GDPD5 (R276H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538285	NM_030792.8(GDPD5):c.986C>T (p.Ser329Phe)	GDPD5 (S191F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536419	NM_030792.8(GDPD5):c.896T>G (p.Met299Arg)	GDPD5 (M54R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530770	NM_030792.8(GDPD5):c.125G>A (p.Arg42His)	GDPD5 (R42H)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2508713	NM_030792.8(GDPD5):c.881G>A (p.Arg294His)	GDPD5 (R156H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494027	NM_030792.8(GDPD5):c.1613C>T (p.Ala538Val)	GDPD5 (A293V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491195	NM_030792.8(GDPD5):c.805G>A (p.Gly269Ser)	GDPD5 (G269S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479715	NM_030792.8(GDPD5):c.1220G>A (p.Gly407Asp)	GDPD5 (G162D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474316	NM_030792.8(GDPD5):c.1320G>C (p.Glu440Asp)	GDPD5 (E302D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470800	NM_030792.8(GDPD5):c.1549C>T (p.Leu517Phe)	GDPD5 (L517F +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2426953	NC_000011.9:g.(?_71146421)_(75283128_?)dup	ANAPC15, ARAP1 +63 more	Duplication	3-methylglutaconic aciduria, type VIIB	GUncertain significance
Select item 2406226	NM_030792.8(GDPD5):c.925A>G (p.Asn309Asp)	GDPD5 (N171D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402068	NM_030792.8(GDPD5):c.116C>T (p.Pro39Leu)	GDPD5 (P39L)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2397368	NM_030792.8(GDPD5):c.1483G>A (p.Glu495Lys)	GDPD5 (E250K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2397057	NM_030792.8(GDPD5):c.1576C>T (p.Arg526Trp)	GDPD5 (R281W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389243	NM_030792.8(GDPD5):c.262G>A (p.Val88Ile)	GDPD5 (V88I)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2379896	NM_030792.8(GDPD5):c.752C>T (p.Ala251Val)	GDPD5 (A251V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376220	NM_030792.8(GDPD5):c.839G>A (p.Arg280Gln)	GDPD5 (R142Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367029	NM_030792.8(GDPD5):c.1622G>A (p.Arg541Gln)	GDPD5 (R296Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364030	NM_030792.8(GDPD5):c.757G>A (p.Glu253Lys)	GDPD5 (E8K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355511	NM_030792.8(GDPD5):c.1630C>T (p.Arg544Trp)	GDPD5 (R299W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348431	NM_030792.8(GDPD5):c.965C>T (p.Thr322Ile)	GDPD5 (T322I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346903	NM_030792.8(GDPD5):c.235C>T (p.Arg79Cys)	GDPD5 (R79C)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2334364	NM_030792.8(GDPD5):c.731C>T (p.Thr244Met)	GDPD5 (T106M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2316187	NM_030792.8(GDPD5):c.895A>C (p.Met299Leu)	GDPD5 (M161L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301547	NM_030792.8(GDPD5):c.556G>A (p.Ala186Thr)	GDPD5 (A48T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2295561	NM_030792.8(GDPD5):c.295G>A (p.Ala99Thr)	GDPD5 (A99T)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 2295300	NM_030792.8(GDPD5):c.1159C>G (p.Gln387Glu)	GDPD5 (Q249E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290984	NM_030792.8(GDPD5):c.1091G>T (p.Arg364Leu)	GDPD5 (R119L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253368	NM_030792.8(GDPD5):c.482C>T (p.Ala161Val)	GDPD5 (A161V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2228565	NM_030792.8(GDPD5):c.878C>T (p.Ala293Val)	GDPD5 (A155V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217962	NM_030792.8(GDPD5):c.181T>C (p.Phe61Leu)	GDPD5 (F61L)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2210549	NM_030792.8(GDPD5):c.1813C>T (p.Arg605Cys)	GDPD5 (R467C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208518	NM_030792.8(GDPD5):c.1631G>A (p.Arg544Gln)	GDPD5 (R406Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	MAML2, MAP3K11 +955 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 1527651	GRCh37/hg19 11q13.4-13.5(chr11:74839014-75366449)	ARRB1, GDPD5 +8 more	Copy number gain	not specified	GUncertain significance
Select item 997825	Single allele	MMP13, MMP20 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 736929	NM_030792.8(GDPD5):c.165G>A (p.Thr55=)	GDPD5	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 563885	GRCh37/hg19 11q13.4-23.3(chr11:71588805-116680918)x3	AAMDC, AASDHPPT +261 more	Copy number gain	not provided	GPathogenic
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	AAMDC, AASDHPPT +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	SLC37A4, SNORD26 +1289 more	Copy number gain	See cases	GPathogenic
Select item 58917	GRCh38/hg38 11q13.4-14.1(chr11:71969881-78232895)x1	AAMDC, ACER3 +355 more	Copy number loss	See cases	GPathogenic
Select item 58916	GRCh38/hg38 11q13.4-13.5(chr11:71928796-77064521)x1	LOC130006424, LOC130006425 +305 more	Copy number loss	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 63