25044[HGNC] - ClinVar

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Items: 55

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144406	GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	ABHD8, ACP5 +2135 more	Copy number gain	See cases	GPathogenic
Select item 57042	GRCh38/hg38 19p13.11-q13.11(chr19:17176767-34924150)x3	LOC130064154, LOC130064155 +625 more	Copy number gain	See cases	GPathogenic
Select item 155638	GRCh38/hg38 19q11-13.11(chr19:27780238-34783942)x3	ANKRD27, C19orf12 +210 more	Copy number gain	See cases	GUncertain significance
Select item 146619	GRCh38/hg38 19q12-13.13(chr19:29661858-38114723)x1	ALKBH6, ANKRD27 +459 more	Copy number loss	See cases	GPathogenic
Select item 147631	GRCh38/hg38 19q12-13.13(chr19:29671324-37902990)x1	ALKBH6, ANKRD27 +439 more	Copy number loss	See cases	GPathogenic
Select item 153499	GRCh38/hg38 19q12-13.12(chr19:31367353-35417098)x1	ANKRD27, CD22 +193 more	Copy number loss	See cases	GPathogenic
Select item 58341	GRCh38/hg38 19q13.11(chr19:32469643-32843761)x1	ANKRD27, DPY19L3 +19 more	Copy number loss	See cases	GUncertain significance
Select item 2479272	NM_001366102.1(TDRD12):c.58A>G (p.Lys20Glu)	TDRD12 (K20E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217966	NM_001366102.1(TDRD12):c.82C>G (p.His28Asp)	TDRD12 (H28D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3175446	NM_001366102.1(TDRD12):c.91G>A (p.Asp31Asn)	TDRD12 (D31N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3175441	NM_001366102.1(TDRD12):c.188G>T (p.Cys63Phe)	TDRD12 (C63F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2623500	NM_001366102.1(TDRD12):c.233T>C (p.Val78Ala)	TDRD12 (V78A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3175442	NM_001366102.1(TDRD12):c.245C>A (p.Thr82Lys)	TDRD12 (T82K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410200	NM_001366102.1(TDRD12):c.253G>A (p.Ala85Thr)	TDRD12 (A85T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354878	NM_001366102.1(TDRD12):c.283G>A (p.Val95Met)	TDRD12 (V95M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3024502	NM_001366102.1(TDRD12):c.287A>C (p.Asp96Ala)	TDRD12 (D96A)	Single nucleotide variant (missense variant)	Male infertility	GUncertain significance
Select item 2354411	NM_001366102.1(TDRD12):c.331G>A (p.Val111Ile)	TDRD12 (V111I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314474	NM_001366102.1(TDRD12):c.334G>T (p.Val112Leu)	TDRD12 (V112L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287341	NM_001366102.1(TDRD12):c.383A>G (p.Tyr128Cys)	TDRD12 (Y128C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3325102	NM_001366102.1(TDRD12):c.421C>G (p.Arg141Gly)	TDRD12 (R141G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463765	NM_001366102.1(TDRD12):c.461A>G (p.Asn154Ser)	LOC130064163, TDRD12 (N154S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3175443	NM_001366102.1(TDRD12):c.466G>T (p.Ala156Ser)	LOC130064163, TDRD12 (A156S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206690	NM_001366102.1(TDRD12):c.475T>C (p.Tyr159His)	LOC130064163, TDRD12 (Y159H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329711	NM_001366102.1(TDRD12):c.478T>C (p.Phe160Leu)	LOC130064163, TDRD12 (F160L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3325100	NM_001366102.1(TDRD12):c.583G>A (p.Val195Ile)	TDRD12 (V195I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3024504	NM_001366102.1(TDRD12):c.593A>G (p.Asn198Ser)	TDRD12 (N198S)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2326233	NM_001366102.1(TDRD12):c.634C>T (p.Pro212Ser)	TDRD12 (P212S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2221597	NM_001366102.1(TDRD12):c.644A>C (p.Asn215Thr)	TDRD12 (N215T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2559525	NM_001366102.1(TDRD12):c.752A>G (p.Lys251Arg)	TDRD12 (K251R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323228	NM_001366102.1(TDRD12):c.773A>G (p.Asp258Gly)	TDRD12 (D258G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3175444	NM_001366102.1(TDRD12):c.803C>T (p.Ser268Phe)	TDRD12 (S268F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3175445	NM_001366102.1(TDRD12):c.853G>A (p.Ala285Thr)	TDRD12 (A285T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2649686	NM_001366102.1(TDRD12):c.903T>A (p.Asp301Glu)	TDRD12 (D301E)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3024505	NM_001366102.1(TDRD12):c.963+1G>T	TDRD12	Single nucleotide variant (splice donor variant)	Male infertility	GLikely pathogenic
Select item 3024506	NM_001366102.1(TDRD12):c.986G>A (p.Trp329Ter)	TDRD12 (W329*)	Single nucleotide variant (nonsense)	Male infertility	GLikely pathogenic
Select item 3325101	NM_001366102.1(TDRD12):c.1000G>T (p.Gly334Cys)	TDRD12 (G334C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328728	NM_001366102.1(TDRD12):c.1005A>G (p.Ile335Met)	TDRD12 (I335M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2230061	NM_001366102.1(TDRD12):c.1152G>C (p.Leu384Phe)	TDRD12 (L384F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2619752	NM_001366102.1(TDRD12):c.1156G>T (p.Ala386Ser)	TDRD12 (A386S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2649687	NM_001366102.1(TDRD12):c.1438G>A (p.Gly480Arg)	TDRD12 (G480R)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2649688	NM_001366102.1(TDRD12):c.1896C>T (p.Pro632=)	TDRD12	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2649689	NM_001366102.1(TDRD12):c.2412C>T (p.Gly804=)	TDRD12	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3024507	NM_001366102.1(TDRD12):c.2419C>T (p.Arg807Cys)	TDRD12 (R807C)	Single nucleotide variant (missense variant)	Male infertility	GLikely pathogenic
Select item 634576	NM_001366102.1(TDRD12):c.2432G>A (p.Arg811Gln)	TDRD12 (R811Q)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 3024508	NM_001366102.1(TDRD12):c.3157del (p.Leu1053fs)	TDRD12 (L1053fs)	Deletion (frameshift variant)	Male infertility	GLikely pathogenic
Select item 3062386	GRCh37/hg19 19q11-13.2(chr19:28271146-41508851)x3	SLC7A9, SNRPA +215 more	Copy number gain	not specified	GPathogenic
Select item 2684889	GRCh37/hg19 19q12-13.11(chr19:32052961-34144873)x3	ANKRD27, CEBPA +17 more	Copy number gain	not provided	GUncertain significance
Select item 2424426	NC_000019.9:g.(?_33167170)_(36643309_?)dup	ALKBH6, APLP1 +83 more	Duplication	Hereditary spastic paraplegia 75	GUncertain significance
Select item 1526661	GRCh37/hg19 19q13.11(chr19:33146131-33251180)	ANKRD27, NUDT19 +2 more	Copy number loss	not specified	GUncertain significance
Select item 1526660	GRCh37/hg19 19q13.11(chr19:32827535-35263640)	ANKRD27, CEBPA +28 more	Copy number gain	not specified	GUncertain significance
Select item 1330177	GRCh37/hg19 19p13.11-q13.2(chr19:19546923-41313229)x3	ACP7, ACTMAP +255 more	Copy number gain	Specific learning disability	GPathogenic
Select item 685025	GRCh37/hg19 19q11-13.33(chr19:28271106-49213832)x3	ZNF607, ZNF780A +432 more	Copy number gain	not provided	GPathogenic
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	PGLYRP1, PGLYRP2 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	TMC4, TMED1 +1364 more	Copy number gain	See cases	GPathogenic
Select item 394109	GRCh37/hg19 19q12-13.12(chr19:30735448-36120396)x3	ANKRD27, ATP4A +58 more	Copy number gain	See cases	GPathogenic

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Items: 55