H4C2[gene] - ClinVar

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

Search results

Items: 41

	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 3283375	NM_003544.3(H4C2):c.307G>A (p.Gly103Ser)	H4C2 (G103S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103989	NM_003544.3(H4C2):c.307G>T (p.Gly103Cys)	H4C2 (G103C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 784494	NM_003544.3(H4C2):c.306C>T (p.Gly102=)	H4C2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3103988	NM_003544.3(H4C2):c.286C>G (p.Arg96Gly)	H4C2 (R96G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 775231	NM_003544.3(H4C2):c.279T>G (p.Arg93=)	H4C2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 708918	NM_003544.3(H4C2):c.267C>T (p.Tyr89=)	H4C2, LOC129996004	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3103987	NM_003544.3(H4C2):c.255G>A (p.Met85Ile)	H4C2, LOC129996004 (M85I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600381	NM_003544.3(H4C2):c.250G>A (p.Ala84Thr)	H4C2, LOC129996004 (A84T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103986	NM_003544.3(H4C2):c.235C>T (p.Arg79Cys)	H4C2, LOC129996004 (R79C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103982	NM_003544.3(H4C2):c.197T>G (p.Val66Gly)	H4C2, LOC129996005 (V66G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 713788	NM_003544.3(H4C2):c.195C>T (p.Asn65=)	H4C2, LOC129996005	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3103981	NM_003544.3(H4C2):c.188T>G (p.Leu63Arg)	H4C2, LOC129996005 (L63R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103980	NM_003544.3(H4C2):c.181G>A (p.Val61Met)	H4C2, LOC129996005 (V61M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103979	NM_003544.3(H4C2):c.169G>A (p.Gly57Ser)	H4C2, LOC129996005 (G57S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103978	NM_003544.3(H4C2):c.163A>G (p.Thr55Ala)	H4C2, LOC129996005 (T55A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103977	NM_003544.3(H4C2):c.162G>T (p.Glu54Asp)	H4C2, LOC129996005 (E54D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478046	NM_003544.3(H4C2):c.124G>A (p.Gly42Ser)	H4C2, LOC129996005 (G42S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524112	NM_003544.3(H4C2):c.116C>T (p.Ala39Val)	H4C2, LOC129996005 (A39V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283374	NM_003544.3(H4C2):c.109C>T (p.Arg37Cys)	H4C2, LOC129996005 (R37C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 755407	NM_003544.3(H4C2):c.99G>A (p.Pro33=)	H4C2, LOC129996005	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3103991	NM_003544.3(H4C2):c.57C>G (p.His19Gln)	H4C2, LOC129996005 (H19Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103990	NM_003544.3(H4C2):c.40G>A (p.Gly14Arg)	H4C2, LOC129996005 (G14R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103985	NM_003544.3(H4C2):c.22G>T (p.Gly8Cys)	H4C2, LOC129996005 (G8C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103984	NM_003544.3(H4C2):c.19G>T (p.Gly7Cys)	H4C2, LOC129996005 (G7C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103983	NM_003544.3(H4C2):c.19G>A (p.Gly7Ser)	H4C2, LOC129996005 (G7S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103976	NM_003544.3(H4C2):c.10C>A (p.Arg4Ser)	H4C2, LOC129996005 (R4S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 722838	NM_003544.3(H4C2):c.6T>A (p.Ser2=)	LOC129996005, H4C2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2516596	NM_003544.3(H4C2):c.5C>T (p.Ser2Phe)	H4C2, LOC129996005 (S2F)	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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 41