H4C9[gene] - ClinVar - NCBI

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Items: 18

	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 144210	GRCh38/hg38 6p22.2-22.1(chr6:26280579-28727313)x3	ABT1, BTN1A1 +344 more	Copy number gain	See cases	GUncertain significance
Select item 3104035	NM_003495.3(H4C9):c.22G>A (p.Gly8Ser)	H2BC12, H4C9 (G8S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3104036	NM_003495.3(H4C9):c.23G>C (p.Gly8Ala)	H2BC12, H4C9 (G8A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3104038	NM_003495.3(H4C9):c.40G>A (p.Gly14Arg)	H2BC12, H4C9 (G14R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3104039	NM_003495.3(H4C9):c.57C>A (p.His19Gln)	H2BC12, H4C9 (H19Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2443865	NM_003495.3(H4C9):c.122G>T (p.Arg41Leu)	H2BC12, H4C9 (R41L)	Single nucleotide variant (missense variant +1 more)	Tessadori-Van Haaften neurodevelopmental syndrome 4	GPathogenic
Select item 3104034	NM_003495.3(H4C9):c.134A>G (p.Lys45Arg)	H2BC12, H4C9 (K45R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2443866	NM_003495.3(H4C9):c.227A>G (p.His76Arg)	H2BC12, H4C9 (H76R)	Single nucleotide variant (missense variant +1 more)	Tessadori-Van Haaften neurodevelopmental syndrome 4	GPathogenic
Select item 3283381	NM_003495.3(H4C9):c.262G>A (p.Val88Ile)	H2BC12, H4C9 (V88I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2623344	NM_003495.3(H4C9):c.271C>T (p.Leu91Phe)	H2BC12, H4C9 (L91F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 780599	NM_003495.3(H4C9):c.306C>T (p.Gly102=)	H2BC12, H4C9	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 3104037	NM_003495.3(H4C9):c.307G>T (p.Gly103Cys)	H2BC12, H4C9 (G103C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 563169	GRCh37/hg19 6p22.2-22.1(chr6:26928203-27344831)x3	H2BC11, H2AC11 +5 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 221452	GRCh37/hg19 6p22.2-22.1(chr6:26545571-27115102)x3	ABT1, H2AC11 +6 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance