H4C5[gene] - ClinVar

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Items: 40

	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 150704	GRCh38/hg38 6p22.2(chr6:25991402-26280693)x3	H1-1, H1-2 +85 more	Copy number gain	See cases	GLikely benign
Select item 3355710	NM_003545.4(H4C5):c.7G>C (p.Gly3Arg)	H4C5 (G3R)	Single nucleotide variant (missense variant)	H4C5-related disorder	GUncertain significance
Select item 2602796	NM_003545.4(H4C5):c.41G>A (p.Gly14Glu)	H4C5, LOC129996027 (G14E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104013	NM_003545.4(H4C5):c.44G>A (p.Gly15Asp)	H4C5, LOC129996027 (G15D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1699461	NM_003545.4(H4C5):c.52C>T (p.Arg18Cys)	H4C5, LOC129996027 (R18C)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder	GUncertain significance
Select item 3104014	NM_003545.4(H4C5):c.63G>T (p.Lys21Asn)	H4C5, LOC129996027 (K21N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3235778	NM_003545.4(H4C5):c.81C>G (p.Ile27Met)	H4C5, LOC129996027 (I27M)	Single nucleotide variant (missense variant)	Tessadori-Van Haaften neurodevelopmental syndrome 3	GLikely pathogenic
Select item 2443860	NM_003545.4(H4C5):c.95A>C (p.Lys32Thr)	LOC129996027, H4C5 (K32T)	Single nucleotide variant (missense variant)	Tessadori-Van Haaften neurodevelopmental syndrome 3	GPathogenic
Select item 2443861	NM_003545.4(H4C5):c.98C>G (p.Pro33Arg)	H4C5, LOC129996027 (P33R)	Single nucleotide variant (missense variant)	Tessadori-Van Haaften neurodevelopmental syndrome 3	GPathogenic
Select item 2170147	NM_003545.4(H4C5):c.98C>T (p.Pro33Leu)	H4C5, LOC129996027 (P33L)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely pathogenic
Select item 2443862	NM_003545.4(H4C5):c.106C>T (p.Arg36Trp)	H4C5, LOC129996027 (R36W)	Single nucleotide variant (missense variant)	Tessadori-Van Haaften neurodevelopmental syndrome 3	GPathogenic
Select item 2598462	NM_003545.4(H4C5):c.110G>C (p.Arg37Pro)	H4C5, LOC129996027 (R37P)	Single nucleotide variant (missense variant)	not specified	GLikely pathogenic
Select item 809888	NM_003545.4(H4C5):c.136C>T (p.Arg46Cys)	H4C5, LOC129996027 (R46C)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 3104007	NM_003545.4(H4C5):c.151A>G (p.Ile51Val)	H4C5, LOC129996027 (I51V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2431938	NM_003545.4(H4C5):c.158_159del (p.Glu53fs)	H4C5 (E53fs)	Deletion (frameshift variant)	Tessadori-Van Haaften neurodevelopmental syndrome 3	GUncertain significance
Select item 3104008	NM_003545.4(H4C5):c.194A>C (p.Asn65Thr)	H4C5 (N65T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532840	NM_003545.4(H4C5):c.202C>T (p.Arg68Cys)	H4C5 (R68C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104009	NM_003545.4(H4C5):c.203G>A (p.Arg68His)	H4C5 (R68H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104010	NM_003545.4(H4C5):c.215C>T (p.Thr72Ile)	H4C5 (T72I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2580829	NM_003545.4(H4C5):c.221C>T (p.Thr74Met)	H4C5 (T74M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2629096	NM_003545.4(H4C5):c.232A>C (p.Lys78Gln)	H4C5 (K78Q)	Single nucleotide variant (missense variant)	H4C5-related disorder	GLikely pathogenic
Select item 2626917	NM_003545.4(H4C5):c.247A>G (p.Thr83Ala)	H4C5 (T83A)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3104011	NM_003545.4(H4C5):c.260T>C (p.Val87Ala)	H4C5 (V87A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2443864	NM_003545.4(H4C5):c.295T>C (p.Tyr99His)	H4C5 (Y99H)	Single nucleotide variant (missense variant)	not specified	GLikely pathogenic
Select item 3104012	NM_003545.4(H4C5):c.304G>A (p.Gly102Ser)	H4C5 (G102S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3367431	NM_003545.4(H4C5):c.310dup (p.Ter104LeuextTer?)	H4C5	Duplication (frameshift variant +1 more)	not provided	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 979707	GRCh37/hg19 6p22.2(chr6:26090243-26265667)x3	H2BC5, H2BC6 +19 more	Copy number gain	not provided	GUncertain significance
Select item 979706	GRCh37/hg19 6p22.2(chr6:26046566-26670193)x3	H2BC7, H2BC8 +34 more	Copy number gain	not provided	GUncertain significance
Select item 688972	GRCh37/hg19 6p22.2(chr6:26067580-26306202)x3	H1-3, H1-4 +24 more	Copy number gain	not provided	GUncertain significance
Select item 688901	GRCh37/hg19 6p22.2(chr6:26067079-26207758)x1	H1-4, H1-6 +11 more	Copy number loss	not provided	GUncertain significance
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 563168	GRCh37/hg19 6p22.2(chr6:26178542-26670193)x3	H2BC6, H3C4 +26 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 221451	GRCh37/hg19 6p22.2(chr6:26104332-26365573)x4	H3C4, H3C6 +24 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance

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Items: 40