130951[geneid] - ClinVar

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Items: 61

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	HAAO, HADHA +2457 more	Copy number gain	See cases	GBenign
Select item 146814	GRCh38/hg38 2p16.1-11.2(chr2:58279519-83586962)x3	AAK1, ACTG2 +768 more	Copy number gain	See cases	GPathogenic
Select item 155389	GRCh38/hg38 2p13.1-12(chr2:74375779-75517520)x1	AUP1, C2orf81 +86 more	Copy number loss	See cases	GLikely pathogenic
Select item 147468	GRCh38/hg38 2p13.1-12(chr2:74432069-75181627)x3	AUP1, CCDC142 +66 more	Copy number gain	See cases	GUncertain significance
Select item 870128	NM_001321739.2(M1AP):c.1435-1G>A	M1AP	Single nucleotide variant (splice acceptor variant)	Spermatogenesis maturation arrest	GPathogenic
Select item 2367463	NM_001321739.2(M1AP):c.1415C>T (p.Pro472Leu)	M1AP (P472L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2237001	NM_001321739.2(M1AP):c.1414C>T (p.Pro472Ser)	M1AP (P472S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356854	NM_001321739.2(M1AP):c.1409G>A (p.Arg470Gln)	M1AP (R470Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2612045	NM_001321739.2(M1AP):c.1306G>C (p.Glu436Gln)	M1AP (E436Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 805832	NM_001321739.2(M1AP):c.1289T>C (p.Leu430Pro)	M1AP (L430P)	Single nucleotide variant (missense variant)	Non-obstructive azoospermia	GUncertain significance
Select item 2372423	NM_001321739.2(M1AP):c.1276G>A (p.Val426Met)	M1AP (V426M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3234245	NM_001321739.2(M1AP):c.1233C>T (p.Phe411=)	M1AP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3292448	NM_001321739.2(M1AP):c.1214T>C (p.Leu405Pro)	M1AP (L405P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383025	NM_001321739.2(M1AP):c.1205C>T (p.Thr402Met)	M1AP (T402M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 805834	NM_001321739.2(M1AP):c.1166C>T (p.Pro389Leu)	M1AP (P389L)	Single nucleotide variant (missense variant)	Non-obstructive azoospermia	GUncertain significance
Select item 3061751	NM_001321739.2(M1AP):c.1073_1074+10del	M1AP	Deletion (splice donor variant)	Male infertility	GPathogenic
Select item 2474724	NM_001321739.2(M1AP):c.971A>G (p.Tyr324Cys)	M1AP (Y324C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 805831	NM_001321739.2(M1AP):c.949G>A (p.Gly317Arg)	M1AP (G317R)	Single nucleotide variant (missense variant)	Non-obstructive azoospermia	GUncertain significance
Select item 2651078	NM_001321739.2(M1AP):c.861A>G (p.Lys287=)	M1AP	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 3121816	NM_001321739.2(M1AP):c.842T>G (p.Leu281Trp)	M1AP (L281W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383279	NM_001321739.2(M1AP):c.839C>T (p.Ser280Phe)	M1AP (S280F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 975854	NM_001321739.2(M1AP):c.797G>A (p.Arg266Gln)	M1AP (R266Q)	Single nucleotide variant (missense variant)	Non-obstructive azoospermia +1 more	GUncertain significance
Select item 3121815	NM_001321739.2(M1AP):c.773G>A (p.Cys258Tyr)	M1AP (C258Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121814	NM_001321739.2(M1AP):c.771G>A (p.Met257Ile)	M1AP (M257I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 805830	NM_001321739.2(M1AP):c.676dup (p.Trp226fs)	M1AP (W226fs)	Duplication (frameshift variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 2377354	NM_001321739.2(M1AP):c.649G>A (p.Val217Ile)	M1AP (V217I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121813	NM_001321739.2(M1AP):c.602C>G (p.Ser201Cys)	M1AP (S201C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2433585	NM_001321739.2(M1AP):c.595+3A>G	M1AP	Single nucleotide variant (intron variant)	Spermatogenic failure 48	GUncertain significance
Select item 2608670	NM_001321739.2(M1AP):c.557T>A (p.Val186Glu)	M1AP (V186E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121812	NM_001321739.2(M1AP):c.502G>A (p.Ala168Thr)	M1AP (A168T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3292449	NM_001321739.2(M1AP):c.460G>A (p.Val154Met)	M1AP (V154M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312716	NM_001321739.2(M1AP):c.437T>C (p.Leu146Pro)	M1AP (L146P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121811	NM_001321739.2(M1AP):c.394A>G (p.Thr132Ala)	M1AP (T132A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3234146	NM_001321739.2(M1AP):c.366A>G (p.Gln122=)	M1AP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2627752	NM_001321739.2(M1AP):c.344C>T (p.Ala115Val)	M1AP (A115V)	Single nucleotide variant (missense variant)	Spermatogenic failure 48	GLikely pathogenic, low penetrance
Select item 2245280	NM_001321739.2(M1AP):c.337C>T (p.Arg113Trp)	M1AP (R113W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324813	NM_001321739.2(M1AP):c.325G>A (p.Gly109Ser)	M1AP (G109S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258752	NM_001321739.2(M1AP):c.293T>C (p.Met98Thr)	M1AP (M98T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535237	NM_001321739.2(M1AP):c.275G>C (p.Cys92Ser)	M1AP (C92S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121810	NM_001321739.2(M1AP):c.274T>G (p.Cys92Gly)	M1AP (C92G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121809	NM_001321739.2(M1AP):c.254A>G (p.Asn85Ser)	M1AP (N85S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374273	NM_001321739.2(M1AP):c.197T>C (p.Leu66Ser)	M1AP (L66S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382440	NM_001321739.2(M1AP):c.179G>A (p.Arg60His)	M1AP (R60H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 805833	NM_001321739.2(M1AP):c.148T>C (p.Ser50Pro)	M1AP (S50P)	Single nucleotide variant (missense variant)	Non-obstructive azoospermia	GUncertain significance
Select item 3121807	NM_001321739.2(M1AP):c.125G>A (p.Cys42Tyr)	M1AP (C42Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3292447	NM_001321739.2(M1AP):c.86T>C (p.Ile29Thr)	M1AP (I29T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383306	NM_001321739.2(M1AP):c.44C>T (p.Thr15Ile)	M1AP (T15I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524382	NM_001321739.2(M1AP):c.37A>G (p.Thr13Ala)	M1AP (T13A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257478	NM_001321739.2(M1AP):c.5A>T (p.His2Leu)	M1AP (H2L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062659	GRCh37/hg19 2p13.3-12(chr2:71076472-76368354)x1	ACTG2, ALMS1 +60 more	Copy number loss	not specified	GLikely pathogenic
Select item 2498869	GRCh37/hg19 2p13.1-12(chr2:73716761-75347894)x1	CCDC142, DCTN1 +35 more	Copy number loss	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 980975	GRCh37/hg19 2p13.1-12(chr2:74780969-75444113)x3	DOK1, HK2 +5 more	Copy number gain	not provided	GUncertain significance
Select item 980974	GRCh37/hg19 2p13.1-12(chr2:74825161-75308974)x3	HK2, M1AP +3 more	Copy number gain	not provided	GLikely benign
Select item 562678	GRCh37/hg19 2p13.1-11.2(chr2:74527522-89125488)x1	ATOH8, AUP1 +78 more	Copy number loss	not provided	GPathogenic
Select item 560065	Single allele	AAK1, ACTG2 +127 more	Duplication	not provided	GPathogenic
Select item 524189	Single allele	ACMSD, C2orf27A +486 more	Deletion	not provided	GLikely pathogenic
Select item 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	RGPD4, RGPD5 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	IL1F10, IL1R1 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442633	GRCh37/hg19 2p13.1-11.2(chr2:74365484-89129064)x1	SFTPB, SH2D6 +81 more	Copy number loss	See cases	GPathogenic

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Items: 61