7932[Gene ID] - ClinVar

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Items: 23

	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 153490	GRCh38/hg38 6p22.1(chr6:28763187-29769828)x3	GABBR1, HCG14 +61 more	Copy number gain	See cases	GUncertain significance
Select item 2268760	NM_007160.4(OR2H2):c.189C>A (p.Asn63Lys)	OR2H2 (N63K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286111	NM_007160.4(OR2H2):c.362A>G (p.Tyr121Cys)	OR2H2 (Y121C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3205148	NM_007160.4(OR2H2):c.410G>T (p.Arg137Leu)	OR2H2 (R137L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239546	NM_007160.4(OR2H2):c.412C>A (p.Leu138Met)	OR2H2 (L138M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364410	NM_007160.4(OR2H2):c.446T>C (p.Ile149Thr)	OR2H2 (I149T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3302700	NM_007160.4(OR2H2):c.505G>A (p.Asp169Asn)	OR2H2 (D169N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337812	NM_007160.4(OR2H2):c.545T>C (p.Leu182Pro)	OR2H2 (L182P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3205149	NM_007160.4(OR2H2):c.589G>A (p.Val197Met)	OR2H2 (V197M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2372917	NM_007160.4(OR2H2):c.609C>G (p.Phe203Leu)	OR2H2 (F203L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347882	NM_007160.4(OR2H2):c.617T>C (p.Val206Ala)	OR2H2 (V206A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2267949	NM_007160.4(OR2H2):c.656T>C (p.Ile219Thr)	OR2H2 (I219T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588444	NM_007160.4(OR2H2):c.677T>C (p.Ile226Thr)	OR2H2 (I226T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301088	NM_007160.4(OR2H2):c.685G>A (p.Ala229Thr)	OR2H2 (A229T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212968	NM_007160.4(OR2H2):c.911G>C (p.Gly304Ala)	OR2H2 (G304A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1807671	GRCh37/hg19 6p22.1(chr6:29162783-30236331)x3	GABBR1, HCG17 +23 more	Copy number gain	not provided	GUncertain significance
Select item 1527231	GRCh37/hg19 6p22.1(chr6:28735761-29585573)	GABBR1, MAS1L +16 more	Copy number loss	not specified	GUncertain significance
Select item 974733	NC_000006.11:g.28005012_31683185del	ABCF1, ABHD16A +106 more	Deletion	Megacolon	GLikely pathogenic
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 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: 23