ClinVar for Gene (Select 255626) - ClinVar

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Links from Gene

Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3103774	NM_170610.3(H2BC1):c.92G>A (p.Arg31His)	H2BC1, SLC17A1 (R31H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103773	NM_170610.3(H2BC1):c.77A>G (p.Lys26Arg)	H2BC1, SLC17A1 (K26R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103772	NM_170610.3(H2BC1):c.74A>G (p.Lys25Arg)	H2BC1, SLC17A1 (K25R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103771	NM_170610.3(H2BC1):c.68C>T (p.Thr23Ile)	H2BC1, SLC17A1 (T23I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103770	NM_170610.3(H2BC1):c.31A>G (p.Ile11Val)	H2BC1, SLC17A1 (I11V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103769	NM_170610.3(H2BC1):c.247G>T (p.Ala83Ser)	H2BC1, SLC17A1 (A83S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103768	NM_170610.3(H2BC1):c.230G>A (p.Ser77Asn)	H2BC1, SLC17A1 (S77N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103767	NM_170610.3(H2BC1):c.212T>C (p.Ile71Thr)	H2BC1, SLC17A1 (I71T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103766	NM_170610.3(H2BC1):c.202G>A (p.Val68Ile)	H2BC1, SLC17A1 (V68I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103765	NM_170610.3(H2BC1):c.119C>G (p.Ser40Cys)	H2BC1, SLC17A1 (S40C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103764	NM_170610.3(H2BC1):c.10G>A (p.Val4Met)	H2BC1, SLC17A1 (V4M)	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 2545042	NM_170610.3(H2BC1):c.167T>C (p.Ile56Thr)	H2BC1, SLC17A1 (I56T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539709	NM_170610.3(H2BC1):c.53A>G (p.Lys18Arg)	H2BC1, SLC17A1 (K18R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532606	NM_170610.3(H2BC1):c.293C>T (p.Thr98Ile)	H2BC1, SLC17A1 (T98I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522531	NM_170610.3(H2BC1):c.14C>T (p.Ser5Leu)	H2BC1, SLC17A1 (S5L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479815	NM_170610.3(H2BC1):c.302G>T (p.Arg101Leu)	H2BC1, SLC17A1 (R101L)	Single nucleotide variant (missense variant)	not specified	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)	TAAR8, TAAR9 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	VPS52, VTA1 +1028 more	Copy number gain	See cases	GPathogenic
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	ANKRD66, C6orf201 +2580 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

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Links from Gene

Items: 25