SPATA31H1[gene] - ClinVar

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Items: 34

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153441	GRCh38/hg38 2p25.3-22.3(chr2:12770-33711509)x3	LOC126806176, LOC126806177 +1047 more	Copy number gain	See cases	GPathogenic
Select item 146072	GRCh38/hg38 2p25.3-23.2(chr2:30341-28419664)x3	ABHD1, ACP1 +893 more	Copy number gain	See cases	GPathogenic
Select item 59133	GRCh38/hg38 2p25.3-16.1(chr2:66097-55570637)x3	LOC129933242, LOC129933243 +1631 more	Copy number gain	See cases	GPathogenic
Select item 155615	GRCh38/hg38 2p25.3-21(chr2:236816-45983232)x3	ABCG5, ABCG8 +1400 more	Copy number gain	See cases	GPathogenic
Select item 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	LOC129934199, LOC129934200 +2457 more	Copy number gain	See cases	GBenign
Select item 153817	GRCh38/hg38 2p24.1-23.2(chr2:22579652-28525186)x1	ABHD1, ADCY3 +321 more	Copy number loss	See cases	GPathogenic
Select item 2367473	NM_032266.5(SPATA31H1):c.10408A>G (p.Thr3470Ala)	SPATA31H1 (T3470A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2392689	NM_032266.5(SPATA31H1):c.11012C>T (p.Pro3671Leu)	SPATA31H1 (P3671L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2386256	NM_032266.5(SPATA31H1):c.11432G>C (p.Cys3811Ser)	SPATA31H1 (C3811S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2254581	NM_032266.5(SPATA31H1):c.11459C>A (p.Ser3820Tyr)	SPATA31H1 (S3820Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2259178	NM_032266.5(SPATA31H1):c.11948C>G (p.Thr3983Arg)	SPATA31H1 (T3983R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2237565	NM_032266.5(SPATA31H1):c.11990T>C (p.Ile3997Thr)	SPATA31H1 (I3997T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2650772	NM_032266.5(SPATA31H1):c.12054T>C (p.Val4018=)	SPATA31H1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2650773	NM_032266.5(SPATA31H1):c.13524C>T (p.Pro4508=)	SPATA31H1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2340830	NM_032266.5(SPATA31H1):c.13780C>T (p.Arg4594Trp)	SPATA31H1 (R4594W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2650774	NM_032266.5(SPATA31H1):c.13862T>C (p.Leu4621Ser)	SPATA31H1 (L4621S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2650775	NM_032266.5(SPATA31H1):c.14175T>C (p.His4725=)	SPATA31H1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2212464	NM_032266.5(SPATA31H1):c.15031C>T (p.Arg5011Cys)	SPATA31H1 (R5011C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2258899	NM_032266.5(SPATA31H1):c.15583C>T (p.His5195Tyr)	SPATA31H1 (H5195Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2205555	NM_032266.5(SPATA31H1):c.15680G>A (p.Arg5227His)	SPATA31H1 (R5227H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2243634	NM_032266.5(SPATA31H1):c.15785A>G (p.Glu5262Gly)	SPATA31H1 (E5262G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2222393	NM_032266.5(SPATA31H1):c.15868C>T (p.Arg5290Cys)	SPATA31H1 (R5290C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2238423	NM_032266.5(SPATA31H1):c.15919A>G (p.Ser5307Gly)	SPATA31H1 (S5307G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2408355	NM_032266.5(SPATA31H1):c.15938G>T (p.Arg5313Leu)	SPATA31H1 (R5313L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2650776	NM_032266.5(SPATA31H1):c.15987T>C (p.His5329=)	SPATA31H1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2370507	NM_032266.5(SPATA31H1):c.16010G>C (p.Arg5337Pro)	SPATA31H1 (R5337P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2210508	NM_032266.5(SPATA31H1):c.16049C>G (p.Pro5350Arg)	SPATA31H1 (P5350R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3148883	GRCh37/hg19 2p25.3-22.3(chr2:12771-35541353)x3	RRM2, RSAD2 +182 more	Copy number gain	See cases	GPathogenic
Select item 2427541	NC_000002.11:g.(?_24443763)_(29022169_?)dup	ZNF513, SLC5A6 +65 more	Duplication	not provided	GUncertain significance
Select item 1708190	GRCh37/hg19 2p25.1-q13(chr2:11504318-111365996)x1	ACTG2, ACTR1B +529 more	Copy number loss	See cases	GPathogenic
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 1176757	GRCh37/hg19 2p23.3-21(chr2:24881528-43460021)x3	GALNT14, GAREM2 +131 more	Copy number gain	not provided	GLikely pathogenic
Select item 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	DCAF17, DCDC2C +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	AAK1, AAMP +1214 more	Copy number gain	See cases	GPathogenic

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Items: 34