ClinVar for Gene (Select 2739) - ClinVar - NCBI

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Links from Gene

Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2685202	GRCh37/hg19 6p21.31-21.1(chr6:35562152-42003452)x1	BNIP5, APOBEC2 +67 more	Copy number loss	not provided	GPathogenic
Select item 2611502	NM_006708.3(GLO1):c.404T>C (p.Val135Ala)	GLO1 (V135A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592659	NM_006708.3(GLO1):c.40G>C (p.Glu14Gln)	GLO1, LOC129996370 (E14Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2488845	NM_006708.3(GLO1):c.74C>G (p.Pro25Arg)	GLO1 (P25R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390369	NM_006708.3(GLO1):c.183T>G (p.Cys61Trp)	GLO1 (C61W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328505	NM_006708.3(GLO1):c.28G>A (p.Gly10Ser)	GLO1, LOC129996370 (G10S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315522	NM_006708.3(GLO1):c.40G>A (p.Glu14Lys)	GLO1, LOC129996370 (E14K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240580	NM_006708.3(GLO1):c.474G>T (p.Met158Ile)	GLO1 (M158I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210286	NM_006708.3(GLO1):c.404T>G (p.Val135Gly)	GLO1 (V135G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2204388	NM_006708.3(GLO1):c.42G>T (p.Glu14Asp)	GLO1, LOC129996370 (E14D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 728005	NM_006708.3(GLO1):c.377-5G>A	GLO1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 687203	GRCh37/hg19 6p21.2(chr6:38382510-38658257)x3	BTBD9, GLO1	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 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 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	ILRUN-AS1, IP6K3 +2582 more	Copy number gain	See cases	GPathogenic
Select item 58427	GRCh38/hg38 6p21.2-21.1(chr6:37777369-45653843)x1	LOC129996415, LOC129996416 +435 more	Copy number loss	See cases	GPathogenic
Select item 16037	NM_006708.3(GLO1):c.332A>C (p.Glu111Ala)	GLO1 (E111A)	Single nucleotide variant (missense variant)	Autism, susceptibility to, 1	GUncertain significance