H4C1[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 19

	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 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 3283366	NM_003538.4(H4C1):c.11G>C (p.Arg4Pro)	H4C1 (R4P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103961	NM_003538.4(H4C1):c.92C>A (p.Thr31Asn)	H4C1 (T31N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2614065	NM_003538.4(H4C1):c.167G>C (p.Arg56Pro)	H4C1 (R56P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103958	NM_003538.4(H4C1):c.214A>G (p.Thr72Ala)	H4C1 (T72A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103959	NM_003538.4(H4C1):c.236G>C (p.Arg79Pro)	H4C1 (R79P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103960	NM_003538.4(H4C1):c.262G>A (p.Val88Ile)	H4C1 (V88I)	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 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