ClinVar for Gene (Select 3006) - ClinVar

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Links from Gene

Items: 77

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3283259	NM_005319.4(H1-2):c.382C>G (p.Pro128Ala)	H1-2 (P128A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3283258	NM_005319.4(H1-2):c.517A>C (p.Ser173Arg)	H1-2 (S173R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283257	NM_005319.4(H1-2):c.428G>C (p.Gly143Ala)	H1-2, LOC129996013 (G143A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283256	NM_005319.4(H1-2):c.550A>C (p.Lys184Gln)	H1-2 (K184Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283255	NM_005319.4(H1-2):c.275C>T (p.Thr92Ile)	H1-2, LOC129996014 (T92I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283254	NM_005319.4(H1-2):c.262G>C (p.Val88Leu)	H1-2, LOC129996014 (V88L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283253	NM_005319.4(H1-2):c.112C>A (p.Pro38Thr)	H1-2, LOC129996014 (P38T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283252	NM_005319.4(H1-2):c.52G>A (p.Ala18Thr)	H1-2, LOC129996014 (A18T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3283251	NM_005319.4(H1-2):c.505A>C (p.Lys169Gln)	H1-2 (K169Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283250	NM_005319.4(H1-2):c.95C>T (p.Pro32Leu)	H1-2, LOC129996014 (P32L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103512	NM_005319.4(H1-2):c.88G>A (p.Gly30Ser)	H1-2, LOC129996014 (G30S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103511	NM_005319.4(H1-2):c.73G>A (p.Ala25Thr)	H1-2, LOC129996014 (A25T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103510	NM_005319.4(H1-2):c.68A>C (p.Lys23Thr)	H1-2, LOC129996014 (K23T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103509	NM_005319.4(H1-2):c.67A>G (p.Lys23Glu)	H1-2, LOC129996014 (K23E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103508	NM_005319.4(H1-2):c.623C>T (p.Ala208Val)	H1-2 (A208V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103505	NM_005319.4(H1-2):c.613C>G (p.Pro205Ala)	H1-2 (P205A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103504	NM_005319.4(H1-2):c.604G>C (p.Val202Leu)	H1-2 (V202L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103503	NM_005319.4(H1-2):c.601A>C (p.Lys201Gln)	H1-2 (K201Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103502	NM_005319.4(H1-2):c.583C>T (p.Pro195Ser)	H1-2 (P195S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103501	NM_005319.4(H1-2):c.574G>C (p.Ala192Pro)	H1-2 (A192P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103500	NM_005319.4(H1-2):c.566C>T (p.Ala189Val)	H1-2 (A189V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103499	NM_005319.4(H1-2):c.563G>A (p.Ser188Asn)	H1-2 (S188N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103498	NM_005319.4(H1-2):c.544C>T (p.Pro182Ser)	H1-2 (P182S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103496	NM_005319.4(H1-2):c.511G>C (p.Ala171Pro)	H1-2 (A171P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103495	NM_005319.4(H1-2):c.504G>T (p.Lys168Asn)	H1-2 (K168N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103494	NM_005319.4(H1-2):c.494C>T (p.Thr165Ile)	H1-2 (T165I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103493	NM_005319.4(H1-2):c.464C>T (p.Pro155Leu)	H1-2 (P155L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103492	NM_005319.4(H1-2):c.463C>T (p.Pro155Ser)	H1-2 (P155S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103491	NM_005319.4(H1-2):c.459A>C (p.Lys153Asn)	H1-2 (K153N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103490	NM_005319.4(H1-2):c.44C>T (p.Ala15Val)	H1-2, LOC129996014 (A15V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103489	NM_005319.4(H1-2):c.417G>C (p.Lys139Asn)	H1-2, LOC129996013 (K139N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103488	NM_005319.4(H1-2):c.416A>G (p.Lys139Arg)	H1-2, LOC129996013 (K139R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3103487	NM_005319.4(H1-2):c.406A>C (p.Lys136Gln)	H1-2, LOC129996013 (K136Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103486	NM_005319.4(H1-2):c.403G>C (p.Ala135Pro)	H1-2, LOC129996013 (A135P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103485	NM_005319.4(H1-2):c.38C>T (p.Pro13Leu)	H1-2, LOC129996014 (P13L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103484	NM_005319.4(H1-2):c.341G>C (p.Gly114Ala)	H1-2 (G114A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103483	NM_005319.4(H1-2):c.335C>T (p.Ala112Val)	H1-2 (A112V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103482	NM_005319.4(H1-2):c.286A>G (p.Thr96Ala)	H1-2, LOC129996014 (T96A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103481	NM_005319.4(H1-2):c.244C>G (p.Leu82Val)	H1-2, LOC129996014 (L82V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103480	NM_005319.4(H1-2):c.222G>C (p.Glu74Asp)	H1-2, LOC129996014 (E74D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103479	NM_005319.4(H1-2):c.216T>A (p.Asp72Glu)	H1-2, LOC129996014 (D72E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103478	NM_005319.4(H1-2):c.212A>G (p.Tyr71Cys)	H1-2, LOC129996014 (Y71C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103477	NM_005319.4(H1-2):c.193G>A (p.Ala65Thr)	H1-2, LOC129996014 (A65T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103476	NM_005319.4(H1-2):c.164G>A (p.Ser55Asn)	H1-2, LOC129996014 (S55N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103475	NM_005319.4(H1-2):c.149C>T (p.Ala50Val)	H1-2, LOC129996014 (A50V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103474	NM_005319.4(H1-2):c.109G>A (p.Gly37Ser)	H1-2, LOC129996014 (G37S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103473	NM_005319.4(H1-2):c.101A>T (p.Lys34Met)	H1-2, LOC129996014 (K34M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2685197	GRCh37/hg19 6p22.3-22.2(chr6:21704602-26187420)x1	ACOT13, ALDH5A1 +38 more	Copy number loss	not provided	GLikely pathogenic
Select item 2656294	NM_005319.4(H1-2):c.271G>A (p.Gly91Ser)	H1-2, LOC129996014 (G91S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2623596	NM_005319.4(H1-2):c.138G>T (p.Lys46Asn)	H1-2, LOC129996014 (K46N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600421	NM_005319.4(H1-2):c.407A>G (p.Lys136Arg)	H1-2, LOC129996013 (K136R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588166	NM_005319.4(H1-2):c.518G>T (p.Ser173Ile)	H1-2 (S173I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2568686	NM_005319.4(H1-2):c.468G>C (p.Lys156Asn)	H1-2 (K156N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550821	NM_005319.4(H1-2):c.238A>G (p.Ile80Val)	H1-2, LOC129996014 (I80V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544292	NM_005319.4(H1-2):c.109G>T (p.Gly37Cys)	H1-2, LOC129996014 (G37C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512387	NM_005319.4(H1-2):c.296C>G (p.Thr99Ser)	H1-2, LOC129996014 (T99S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510737	NM_005319.4(H1-2):c.614C>T (p.Pro205Leu)	H1-2 (P205L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509406	NM_005319.4(H1-2):c.394G>A (p.Val132Ile)	H1-2 (V132I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2477864	NM_005319.4(H1-2):c.539C>G (p.Ala180Gly)	H1-2 (A180G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471003	NM_005319.4(H1-2):c.584C>T (p.Pro195Leu)	H1-2 (P195L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468836	NM_005319.4(H1-2):c.22G>A (p.Ala8Thr)	H1-2, LOC129996014 (A8T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467419	NM_005319.4(H1-2):c.148G>T (p.Ala50Ser)	H1-2, LOC129996014 (A50S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463810	NM_005319.4(H1-2):c.202G>T (p.Ala68Ser)	H1-2, LOC129996014 (A68S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463752	NM_005319.4(H1-2):c.37C>T (p.Pro13Ser)	H1-2, LOC129996014 (P13S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1527230	GRCh37/hg19 6p22.2(chr6:25839165-26536884)	BTN2A1, BTN2A2 +42 more	Copy number gain	not specified	GUncertain significance
Select item 1341201	GRCh37/hg19 6p22.2(chr6:26008259-26168230)x1	H1-1, H1-2 +14 more	Copy number loss	not provided	GPathogenic
Select item 979706	GRCh37/hg19 6p22.2(chr6:26046566-26670193)x3	H2BC7, H2BC8 +34 more	Copy number gain	not provided	GUncertain significance
Select item 686739	GRCh37/hg19 6p22.2(chr6:25996066-26303969)x3	H1-1, H1-2 +33 more	Copy number gain	not provided	GUncertain significance
Select item 685082	GRCh37/hg19 6p22.2(chr6:25896585-26287389)x4	H1-1, H1-2 +34 more	Copy number gain	not provided	GUncertain significance
Select item 563167	GRCh37/hg19 6p22.2(chr6:25851789-26319486)x3	H1-1, H1-2 +36 more	Copy number gain	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
Select item 221450	GRCh37/hg19 6p22.2(chr6:26020923-26056336)x4	H3C2, H3C3 +6 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	ILRUN-AS1, IP6K3 +2582 more	Copy number gain	See cases	GPathogenic
Select item 152408	GRCh38/hg38 6p22.2(chr6:25991391-26116829)x3	H1-1, H1-2 +30 more	Copy number gain	See cases	GLikely benign
Select item 150704	GRCh38/hg38 6p22.2(chr6:25991402-26280693)x3	H1-1, H1-2 +85 more	Copy number gain	See cases	GLikely benign
Select item 150044	GRCh38/hg38 6p25.2-21.33(chr6:3224310-30657190)x3	ABCF1, ABT1 +1340 more	Copy number gain	See cases	GPathogenic

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Items: 77