H2AC1[gene] - ClinVar

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Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 150044	GRCh38/hg38 6p25.2-21.33(chr6:3224310-30657190)x3	ABCF1, ABT1 +1340 more	Copy number gain	See cases	GPathogenic
Select item 149747	GRCh38/hg38 6p22.3-22.2(chr6:23252522-25967277)x1	ACOT13, ALDH5A1 +64 more	Copy number loss	See cases	GUncertain significance
Select item 2463224	NM_170745.3(H2AC1):c.382G>T (p.Ala128Ser)	H2AC1, SLC17A1 (A128S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524462	NM_170745.3(H2AC1):c.361A>G (p.Thr121Ala)	H2AC1, SLC17A1 (T121A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545040	NM_170745.3(H2AC1):c.311C>T (p.Ala104Val)	H2AC1, SLC17A1 (A104V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516389	NM_170745.3(H2AC1):c.299G>C (p.Gly100Ala)	H2AC1, SLC17A1 (G100A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283297	NM_170745.3(H2AC1):c.230C>G (p.Thr77Ser)	H2AC1, SLC17A1 (T77S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103670	NM_170745.3(H2AC1):c.155T>C (p.Leu52Ser)	H2AC1, SLC17A1 (L52S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283295	NM_170745.3(H2AC1):c.107G>C (p.Arg36Pro)	H2AC1, SLC17A1 (R36P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523244	NM_170745.3(H2AC1):c.103C>T (p.Leu35Phe)	H2AC1, SLC17A1 (L35F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599245	NM_170745.3(H2AC1):c.62G>T (p.Arg21Ile)	H2AC1, SLC17A1 (R21I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103672	NM_170745.3(H2AC1):c.41A>G (p.Lys14Arg)	H2AC1, SLC17A1 (K14R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541350	NM_170745.3(H2AC1):c.38C>A (p.Ala13Asp)	H2AC1, SLC17A1 (A13D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103671	NM_170745.3(H2AC1):c.29A>T (p.Lys10Ile)	H2AC1, SLC17A1 (K10I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459290	NM_170745.3(H2AC1):c.22G>A (p.Gly8Arg)	H2AC1, SLC17A1 (G8R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062940	GRCh37/hg19 6p22.2(chr6:25560739-26008260)x3	CARMIL1, H2AC1 +7 more	Copy number gain	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 2684444	GRCh37/hg19 6p22.2(chr6:25283123-25730027)x3	CARMIL1, H2AC1 +2 more	Copy number gain	not provided	GUncertain significance
Select item 979705	GRCh37/hg19 6p22.2(chr6:25622751-25853825)x1	SLC17A3, H2AC1 +4 more	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: 22