HAUS4[gene] - ClinVar

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

Search results

Items: 42

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59932	GRCh38/hg38 14q11.2-21.1(chr14:20000611-38984415)x3	LOC130055392, LOC130055393 +780 more	Copy number gain	See cases	GPathogenic
Select item 155119	GRCh38/hg38 14q11.2-21.2(chr14:20022693-44093672)x3	ABHD4, ACIN1 +814 more	Copy number gain	See cases	GPathogenic
Select item 155681	GRCh38/hg38 14q11.2-21.3(chr14:20043513-48642042)x3	OR10G2, OR10G3 +859 more	Copy number gain	See cases	GPathogenic
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	LOC126862060, LOC126862061 +3282 more	Copy number gain	See cases	GPathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	LOC125048449, LOC125048450 +3277 more	Copy number gain	See cases	GPathogenic
Select item 57246	GRCh38/hg38 14q11.2(chr14:20151149-23442195)x3	ABHD4, ACIN1 +399 more	Copy number gain	See cases	GPathogenic
Select item 57745	GRCh38/hg38 14q11.2-21.2(chr14:20196945-45284802)x1	LOC112214170, LOC112214171 +840 more	Copy number loss	See cases	GPathogenic
Select item 148657	GRCh38/hg38 14q11.2-12(chr14:20412587-25018120)x3	LOC124958010, LOC124958011 +529 more	Copy number gain	See cases	GLikely pathogenic
Select item 152232	GRCh38/hg38 14q11.2(chr14:21010790-22951814)x3	ABHD4, ARHGEF40 +242 more	Copy number gain	See cases	GUncertain significance
Select item 2390190	NM_001166269.2(HAUS4):c.1048A>C (p.Asn350His)	HAUS4, PRMT5-DT (N305H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104332	NM_001166269.2(HAUS4):c.976T>G (p.Ser326Ala)	HAUS4, PRMT5-DT (S326A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461699	NM_001166269.2(HAUS4):c.914G>A (p.Arg305His)	HAUS4, PRMT5-DT (R260H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283530	NM_001166269.2(HAUS4):c.899G>A (p.Arg300His)	HAUS4, PRMT5-DT (R255H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402578	NM_001166269.2(HAUS4):c.868A>T (p.Thr290Ser)	HAUS4, PRMT5-DT (T245S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556862	NM_001166269.2(HAUS4):c.664G>A (p.Glu222Lys)	HAUS4, PRMT5-DT (E177K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283531	NM_001166269.2(HAUS4):c.580G>A (p.Val194Met)	HAUS4, PRMT5-DT (V149M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455169	NM_001166269.2(HAUS4):c.569A>C (p.Asp190Ala)	HAUS4, PRMT5-DT (D145A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 719752	NM_001166269.2(HAUS4):c.548A>G (p.Tyr183Cys)	HAUS4, PRMT5-DT (Y138C +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2251009	NM_001166269.2(HAUS4):c.533C>T (p.Thr178Ile)	HAUS4, PRMT5-DT (T178I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104331	NM_001166269.2(HAUS4):c.477G>C (p.Trp159Cys)	HAUS4, PRMT5-DT (W114C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288033	NM_001166269.2(HAUS4):c.439C>T (p.Leu147Phe)	HAUS4, PRMT5-DT (L147F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3104330	NM_001166269.2(HAUS4):c.434C>T (p.Ala145Val)	HAUS4, PRMT5-DT (A145V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2330912	NM_001166269.2(HAUS4):c.392G>A (p.Ser131Asn)	HAUS4, PRMT5-DT (S131N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3283533	NM_001166269.2(HAUS4):c.337G>A (p.Glu113Lys)	HAUS4, PRMT5-DT (E113K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2619774	NM_001166269.2(HAUS4):c.310G>T (p.Val104Leu)	HAUS4, PRMT5-DT (V104L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3283532	NM_001166269.2(HAUS4):c.266A>C (p.Gln89Pro)	HAUS4, PRMT5-DT (Q89P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104329	NM_001166269.2(HAUS4):c.23C>T (p.Ser8Leu)	HAUS4 (S8L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3104328	NM_001166269.2(HAUS4):c.22T>C (p.Ser8Pro)	HAUS4 (S8P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2684714	GRCh37/hg19 14q11.2-23.1(chr14:20511673-61826023)x3	ABHD12B, ABHD4 +289 more	Copy number gain	not provided	GPathogenic
Select item 2423736	NC_000014.8:g.(?_23242819)_(25103366_?)dup	MRPL52, MYH6 +77 more	Duplication	Lysinuric protein intolerance +1 more	GUncertain significance
Select item 1703540	GRCh37/hg19 14q11.2-21.3(chr14:20511672-47481203)	ABHD4, ACIN1 +197 more	Copy number gain	Seizure	GPathogenic
Select item 1676204	NC_000014.8:g.(21162263_36986276)_(36987308_50713602)del	DHRS1, NYNRIN +190 more	Deletion	Brain-lung-thyroid syndrome	GPathogenic
Select item 1326312	GRCh37/hg19 14q11.2(chr14:20925965-23649548)x3	PRMT5, PSMB11 +60 more	Copy number gain	14q11.2 microduplication	GLikely pathogenic
Select item 973024	GRCh37/hg19 14q11.2-21.1(chr14:20511672-42881888)x3	AKAP6, MDP1 +187 more	Copy number gain	not provided	Gnot provided
Select item 815628	GRCh37/hg19 14q11.2-21.2(chr14:20511672-44829030)x3	ABHD4, ACIN1 +187 more	Copy number gain	not provided	GPathogenic
Select item 666446	GRCh37/hg19 14q11.2(chr14:21717093-24027220)x3	SLC22A17, SLC7A7 +47 more	Copy number gain	not provided	GLikely pathogenic
Select item 625814	GRCh37/hg19 14q11.2-12(chr14:19100682-28730087)	ARHGEF40, BCL2L2 +152 more	Copy number gain	not provided	GPathogenic
Select item 564102	GRCh37/hg19 14q11.2(chr14:23240787-23468899)x1	SLC7A7, MMP14 +9 more	Copy number loss	not provided	GUncertain significance
Select item 443977	GRCh37/hg19 14q11.2-32.33(chr14:20511673-107285437)	GTF2A1, GZMB +624 more	Copy number gain	See cases	GPathogenic
Select item 395470	GRCh37/hg19 14q11.2-32.33(chr14:19794561-107234280)x3	ABCD4, ABHD12B +635 more	Copy number gain	See cases	GPathogenic
Select item 394361	GRCh37/hg19 14q11.2-13.1(chr14:19794561-34049214)x3	OR5AU1, OR6S1 +164 more	Copy number gain	See cases	GPathogenic
Select item 253659	GRCh37/hg19 14q11.2-12(chr14:19794561-27768254)x3	ABHD4, ACIN1 +149 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: 42