ClinVar for Gene (Select 8335) - ClinVar

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Links from Gene

Items: 30

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3103741	NM_003513.3(H2AC4):c.43G>A (p.Ala15Thr)	H2AC4 (A15T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103740	NM_003513.3(H2AC4):c.235A>G (p.Ile79Val)	H2AC4 (I79V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103739	NM_003513.3(H2AC4):c.222C>G (p.Asn74Lys)	H2AC4 (N74K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103738	NM_003513.3(H2AC4):c.206A>G (p.Asn69Ser)	H2AC4 (N69S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103737	NM_003513.3(H2AC4):c.205A>G (p.Asn69Asp)	H2AC4 (N69D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103736	NM_003513.3(H2AC4):c.158C>T (p.Ala53Val)	H2AC4 (A53V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103735	NM_003513.3(H2AC4):c.124G>C (p.Glu42Gln)	H2AC4 (E42Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103734	NM_003513.3(H2AC4):c.116A>G (p.Asn39Ser)	H2AC4 (N39S)	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 2656293	NM_003513.3(H2AC4):c.189C>T (p.Ile63=)	H2AC4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2602778	NM_003513.3(H2AC4):c.107G>A (p.Arg36His)	H2AC4 (R36H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599474	NM_003513.3(H2AC4):c.65C>T (p.Ala22Val)	H2AC4 (A22V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595131	NM_003513.3(H2AC4):c.37G>A (p.Ala13Thr)	H2AC4 (A13T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516802	NM_003513.3(H2AC4):c.179C>T (p.Thr60Ile)	H2AC4 (T60I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512334	NM_003513.3(H2AC4):c.95A>C (p.His32Pro)	H2AC4 (H32P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467471	NM_003513.3(H2AC4):c.5C>T (p.Ser2Phe)	H2AC4 (S2F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462787	NM_003513.3(H2AC4):c.53G>A (p.Arg18Gln)	H2AC4 (R18Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457353	NM_003513.3(H2AC4):c.77T>A (p.Phe26Tyr)	H2AC4 (F26Y)	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 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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Links from Gene

Items: 30