HAUS8[gene] - ClinVar

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Items: 49

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144406	GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	LOC130064390, LOC130064391 +2135 more	Copy number gain	See cases	GPathogenic
Select item 59114	GRCh38/hg38 19p13.12-q11(chr19:13974677-27839676)x3	LOC130063908, LOC130063909 +695 more	Copy number gain	See cases	GPathogenic
Select item 147522	GRCh38/hg38 19p13.12-12(chr19:15133594-24193591)x3	LOC130064107, LOC130064108 +574 more	Copy number gain	See cases	GPathogenic
Select item 3104374	NM_033417.2(HAUS8):c.1211G>A (p.Arg404His)	HAUS8, LOC121627860 (R403H +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3104373	NM_033417.2(HAUS8):c.1166A>G (p.Asp389Gly)	HAUS8, LOC121627860 (D388G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209037	NM_033417.2(HAUS8):c.1124C>T (p.Ser375Leu)	HAUS8, LOC121627860 (S374L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104372	NM_033417.2(HAUS8):c.1108G>A (p.Asp370Asn)	HAUS8, LOC121627860 (D369N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 782642	NM_033417.2(HAUS8):c.1022C>T (p.Ala341Val)	HAUS8, LOC121627860 (A341V +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2265022	NM_033417.2(HAUS8):c.959C>T (p.Ala320Val)	HAUS8 (A320V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313619	NM_033417.2(HAUS8):c.881T>C (p.Leu294Pro)	HAUS8 (L293P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530496	NM_033417.2(HAUS8):c.868G>A (p.Val290Met)	HAUS8 (V290M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218361	NM_033417.2(HAUS8):c.857A>G (p.Glu286Gly)	HAUS8 (E286G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521470	NM_033417.2(HAUS8):c.820C>T (p.Arg274Cys)	HAUS8 (R273C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104386	NM_033417.2(HAUS8):c.808G>T (p.Val270Leu)	HAUS8 (V269L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2606423	NM_033417.2(HAUS8):c.781C>G (p.Leu261Val)	HAUS8 (L260V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104384	NM_033417.2(HAUS8):c.745G>A (p.Val249Met)	HAUS8 (V248M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104383	NM_033417.2(HAUS8):c.725C>T (p.Thr242Ile)	HAUS8 (T242I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458020	NM_033417.2(HAUS8):c.713C>T (p.Thr238Met)	HAUS8 (T238M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406228	NM_033417.2(HAUS8):c.706T>A (p.Phe236Ile)	HAUS8 (F236I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2569728	NM_033417.2(HAUS8):c.667G>A (p.Glu223Lys)	HAUS8 (E223K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599431	NM_033417.2(HAUS8):c.661C>T (p.Pro221Ser)	HAUS8 (P220S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468602	NM_033417.2(HAUS8):c.649G>A (p.Glu217Lys)	HAUS8 (E216K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526319	NM_033417.2(HAUS8):c.619G>A (p.Glu207Lys)	HAUS8 (E206K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104382	NM_033417.2(HAUS8):c.589C>T (p.Arg197Cys)	HAUS8 (R196C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2569807	NM_033417.2(HAUS8):c.580G>A (p.Glu194Lys)	HAUS8 (E194K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104381	NM_033417.2(HAUS8):c.577C>T (p.His193Tyr)	HAUS8 (H193Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104380	NM_033417.2(HAUS8):c.470C>T (p.Thr157Met)	HAUS8 (T156M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278157	NM_033417.2(HAUS8):c.457A>T (p.Thr153Ser)	HAUS8 (T153S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104379	NM_033417.2(HAUS8):c.447G>A (p.Met149Ile)	HAUS8 (M148I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104378	NM_033417.2(HAUS8):c.434C>T (p.Ala145Val)	HAUS8 (A144V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104377	NM_033417.2(HAUS8):c.347C>T (p.Thr116Met)	HAUS8 (T115M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 782643	NM_033417.2(HAUS8):c.336C>T (p.Ile112=)	HAUS8	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3104376	NM_033417.2(HAUS8):c.236G>C (p.Ser79Thr)	HAUS8 (S79T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457399	NM_033417.2(HAUS8):c.220A>G (p.Lys74Glu)	HAUS8 (K74E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104375	NM_033417.2(HAUS8):c.176G>A (p.Arg59Gln)	HAUS8 (R59Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333576	NM_033417.2(HAUS8):c.125A>G (p.Tyr42Cys)	HAUS8 (Y42C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372199	NM_033417.2(HAUS8):c.112C>T (p.Arg38Trp)	HAUS8 (R38W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062393	GRCh37/hg19 19p13.13-13.11(chr19:13970692-18139376)x3	CYP4F8, DCAF15 +109 more	Copy number gain	not specified	GUncertain significance
Select item 3062387	GRCh37/hg19 19p13.11(chr19:16857649-17423590)x3	NR2F6, NWD1 +13 more	Copy number gain	not specified	GUncertain significance
Select item 2684887	GRCh37/hg19 19p13.12-13.11(chr19:14888106-17360864)x3	ADGRE2, AKAP8 +55 more	Copy number gain	not provided	GUncertain significance
Select item 2425869	NC_000019.9:g.(?_14847048)_(17394124_?)del	ADGRE2, AKAP8 +57 more	Deletion	not provided	GUncertain significance
Select item 980194	GRCh37/hg19 19p13.12-12(chr19:14286624-20956753)x3	BST2, NWD1 +158 more	Copy number gain	not provided	GPathogenic
Select item 688037	GRCh37/hg19 19p13.11(chr19:16875725-17477318)x1	ABHD8, ANKLE1 +16 more	Copy number loss	not provided	GUncertain significance
Select item 560145	Single allele	ABHD8, ANKLE1 +16 more	Duplication	not provided	GUncertain significance
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	A1BG, ABCA7 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	LILRA4, LILRA5 +1364 more	Copy number gain	See cases	GPathogenic
Select item 442665	GRCh37/hg19 19p13.12-13.11(chr19:15921132-17479860)x1	ABHD8, ANKLE1 +35 more	Copy number loss	See cases	GLikely pathogenic
Select item 424641	GRCh37/hg19 19p13.12-13.11(chr19:15970389-17893528)x1	HSH2D, KLF2 +46 more	Copy number loss	not provided	GPathogenic
Select item 253857	GRCh37/hg19 19p13.11(chr19:17001280-17536087)x3	ABHD8, ANKLE1 +16 more	Copy number gain	See cases	GUncertain significance

ClinVar

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Items: 49