GHDC[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 49

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	AARSD1, AATF +2032 more	Copy number gain	See cases	GPathogenic
Select item 57282	GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3	LOC126862582, LOC126862583 +1753 more	Copy number gain	See cases	GPathogenic
Select item 58696	GRCh38/hg38 17q12-21.31(chr17:39199873-45629579)x3	LOC130060786, LOC130060787 +633 more	Copy number gain	See cases	GPathogenic
Select item 2274653	NM_032484.5(GHDC):c.1547G>C (p.Arg516Pro)	GHDC (R516P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2611430	NM_032484.5(GHDC):c.1532T>C (p.Met511Thr)	GHDC (M511T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2603402	NM_032484.5(GHDC):c.1529C>G (p.Ala510Gly)	GHDC (A510G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2401377	NM_032484.5(GHDC):c.1529C>A (p.Ala510Glu)	GHDC (A510E)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2549349	NM_032484.5(GHDC):c.1525C>G (p.Pro509Ala)	GHDC (P509A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2456237	NM_032484.5(GHDC):c.1525C>T (p.Pro509Ser)	GHDC (P509S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3099709	NM_032484.5(GHDC):c.1424T>C (p.Phe475Ser)	GHDC (F475S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2518225	NM_032484.5(GHDC):c.1331C>T (p.Ala444Val)	GHDC (R474C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099707	NM_032484.5(GHDC):c.1286T>C (p.Leu429Pro)	GHDC (L429P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099706	NM_032484.5(GHDC):c.1241C>A (p.Ala414Glu)	GHDC (A414E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522650	NM_032484.5(GHDC):c.1223G>A (p.Arg408Gln)	GHDC (R408Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2389705	NM_032484.5(GHDC):c.1222C>T (p.Arg408Trp)	GHDC (R408W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3281346	NM_032484.5(GHDC):c.1192G>A (p.Gly398Ser)	GHDC (G398S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316710	NM_032484.5(GHDC):c.1178G>A (p.Arg393Gln)	GHDC (R393Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356085	NM_032484.5(GHDC):c.1138G>A (p.Val380Ile)	GHDC (V380I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3281345	NM_032484.5(GHDC):c.1090C>G (p.Leu364Val)	GHDC (L364V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3281348	NM_032484.5(GHDC):c.1088G>T (p.Arg363Leu)	GHDC (R363L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351697	NM_032484.5(GHDC):c.1088G>A (p.Arg363His)	GHDC (R363H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545710	NM_032484.5(GHDC):c.1067G>A (p.Arg356His)	GHDC (R356H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2541008	NM_032484.5(GHDC):c.985G>A (p.Gly329Ser)	GHDC (G329S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257195	NM_032484.5(GHDC):c.871G>A (p.Ala291Thr)	GHDC (A291T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099720	NM_032484.5(GHDC):c.856G>A (p.Ala286Thr)	GHDC (A286T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338157	NM_032484.5(GHDC):c.853C>A (p.Leu285Ile)	GHDC (L285I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099719	NM_032484.5(GHDC):c.832G>A (p.Gly278Arg)	GHDC (G278R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3281347	NM_032484.5(GHDC):c.814G>A (p.Glu272Lys)	GHDC (E272K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099718	NM_032484.5(GHDC):c.800C>T (p.Ala267Val)	GHDC (A267V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272009	NM_032484.5(GHDC):c.701G>A (p.Arg234His)	GHDC (R234H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099717	NM_032484.5(GHDC):c.700C>T (p.Arg234Cys)	GHDC (R234C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407796	NM_032484.5(GHDC):c.684C>G (p.Asn228Lys)	GHDC (N228K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099716	NM_032484.5(GHDC):c.679G>A (p.Gly227Arg)	GHDC (G227R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382045	NM_032484.5(GHDC):c.674C>G (p.Ala225Gly)	GHDC (A225G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3281344	NM_032484.5(GHDC):c.668C>T (p.Ala223Val)	GHDC (A223V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494660	NM_032484.5(GHDC):c.530C>T (p.Pro177Leu)	GHDC (P177L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099715	NM_032484.5(GHDC):c.500C>T (p.Pro167Leu)	GHDC (P167L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099714	NM_032484.5(GHDC):c.464C>T (p.Thr155Met)	GHDC (T155M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099713	NM_032484.5(GHDC):c.385C>A (p.Gln129Lys)	GHDC (Q129K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099712	NM_032484.5(GHDC):c.344T>C (p.Leu115Pro)	GHDC (L115P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399603	NM_032484.5(GHDC):c.299C>T (p.Thr100Ile)	GHDC (T100I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099711	NM_032484.5(GHDC):c.280C>T (p.Arg94Trp)	GHDC (R94W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466039	NM_032484.5(GHDC):c.254G>A (p.Arg85Lys)	GHDC (R85K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460734	NM_032484.5(GHDC):c.248C>A (p.Ser83Tyr)	GHDC (S83Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099710	NM_032484.5(GHDC):c.235C>T (p.Arg79Cys)	GHDC (R79C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3242217	GRCh37/hg19 17q12-22(chr17:41196270-41277589)	SLC4A1, DCAKD +422 more	Copy number loss	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 3063506	GRCh37/hg19 17q21.2(chr17:39705863-40358580)x3	ACLY, CNP +25 more	Copy number gain	not specified	GUncertain significance
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	ALOX12, ALOX12B +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	SPEM2, TBCD +1143 more	Copy number gain	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 49