15708[HGNC] - ClinVar

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Items: 38

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 149301	GRCh38/hg38 6p21.1-12.1(chr6:45681671-54212044)x1	GSTA3, GSTA4 +228 more	Copy number loss	See cases	GPathogenic
Select item 145584	GRCh38/hg38 6p12.3-11.2(chr6:50971182-57432788)x1	BAG2, BEND6 +171 more	Copy number loss	See cases	GPathogenic
Select item 147999	GRCh38/hg38 6p12.3-12.1(chr6:51093754-53859634)x4	CILK1, EFHC1 +119 more	Copy number gain	See cases	GPathogenic
Select item 147421	GRCh38/hg38 6p12.2(chr6:51803422-52698500)x1	EFHC1, IL17A +58 more	Copy number loss	See cases	GPathogenic
Select item 151163	GRCh38/hg38 6p12.2(chr6:52361400-52451825)x1	EFHC1, LOC110121250 +5 more	Copy number loss	See cases	GUncertain significance
Select item 3304308	NM_133367.5(PAQR8):c.132G>C (p.Gln44His)	PAQR8 (Q44H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208566	NM_133367.5(PAQR8):c.173C>T (p.Thr58Met)	PAQR8 (T58M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398745	NM_133367.5(PAQR8):c.319A>G (p.Thr107Ala)	PAQR8 (T107A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2288045	NM_133367.5(PAQR8):c.358A>G (p.Ile120Val)	PAQR8 (I120V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208567	NM_133367.5(PAQR8):c.382C>G (p.Leu128Val)	PAQR8 (L128V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532249	NM_133367.5(PAQR8):c.407C>T (p.Ser136Leu)	PAQR8 (S136L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597116	NM_133367.5(PAQR8):c.443A>G (p.Tyr148Cys)	PAQR8 (Y148C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208568	NM_133367.5(PAQR8):c.515A>G (p.Tyr172Cys)	PAQR8 (Y172C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362813	NM_133367.5(PAQR8):c.520C>T (p.Arg174Trp)	PAQR8 (R174W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302606	NM_133367.5(PAQR8):c.541C>T (p.Pro181Ser)	PAQR8 (P181S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235171	NM_133367.5(PAQR8):c.556T>C (p.Cys186Arg)	PAQR8 (C186R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329557	NM_133367.5(PAQR8):c.575C>T (p.Ala192Val)	PAQR8 (A192V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208570	NM_133367.5(PAQR8):c.613T>C (p.Tyr205His)	PAQR8 (Y205H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208571	NM_133367.5(PAQR8):c.706C>T (p.His236Tyr)	PAQR8 (H236Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2557696	NM_133367.5(PAQR8):c.709C>G (p.Leu237Val)	PAQR8 (L237V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366580	NM_133367.5(PAQR8):c.815C>T (p.Pro272Leu)	PAQR8 (P272L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483578	NM_133367.5(PAQR8):c.839A>G (p.His280Arg)	PAQR8 (H280R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305562	NM_133367.5(PAQR8):c.959T>C (p.Val320Ala)	PAQR8 (V320A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517894	NM_133367.5(PAQR8):c.1012G>A (p.Ala338Thr)	PAQR8 (A338T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325072	NM_133367.5(PAQR8):c.1012G>T (p.Ala338Ser)	PAQR8 (A338S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458596	NM_133367.5(PAQR8):c.1049C>A (p.Thr350Asn)	PAQR8 (T350N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556399	NM_133367.5(PAQR8):c.1057G>T (p.Asp353Tyr)	PAQR8 (D353Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2685203	GRCh37/hg19 6p12.3-12.1(chr6:50181657-55538355)x1	CILK1, EFHC1 +30 more	Copy number loss	not provided	GPathogenic
Select item 1676306	GRCh37/hg19 6p21.1-q12(chr6:43636308-64947206)x3	PAQR8, PGK2 +92 more	Copy number gain	not provided	GLikely pathogenic
Select item 1340051	GRCh37/hg19 6p12.2(chr6:52238224-52541279)x3	EFHC1, PAQR8 +2 more	Copy number gain	not provided	GUncertain significance
Select item 1042479	NC_000006.11:g.(?_51930764)_(52906034_?)del	CILK1, EFHC1 +15 more	Deletion	not provided	GUncertain significance
Select item 983177	GRCh37/hg19 6p12.3-12.1(chr6:48626041-55575545)x1	TFAP2D, TINAG +43 more	Copy number loss	See cases	GLikely pathogenic
Select item 916002	GRCh37/hg19 6p12.3-12.2(chr6:51695623-52371918)	EFHC1, IL17A +7 more	Copy number loss	Autosomal recessive polycystic kidney disease	GPathogenic
Select item 688629	GRCh37/hg19 6p12.3-12.2(chr6:51637152-52303162)x3	EFHC1, IL17A +6 more	Copy number gain	not provided	GUncertain significance
Select item 625706	GRCh37/hg19 6p22.1-q14.1(chr6:29455465-81447367)	ERVH-3, ETV7 +427 more	Copy number gain	not provided	GPathogenic
Select item 563181	GRCh37/hg19 6p12.2(chr6:52225532-52340287)x1	PAQR8, EFHC1	Copy number loss	not provided	GUncertain significance
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	AARS2, ABCC10 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	RING1, RIOK1 +1028 more	Copy number gain	See cases	GPathogenic

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Items: 38