4787[HGNC] - ClinVar

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Items: 51

	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 3103997	NM_003542.4(H4C3):c.8G>C (p.Gly3Ala)	H4C3 (G3A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3041804	NM_003542.4(H4C3):c.12C>T (p.Arg4=)	H4C3	Single nucleotide variant (synonymous variant)	H4C3-related disorder	GLikely benign
Select item 3103992	NM_003542.4(H4C3):c.13G>T (p.Gly5Cys)	H4C3 (G5C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3055006	NM_003542.4(H4C3):c.21C>A (p.Gly7=)	H4C3	Single nucleotide variant (synonymous variant)	H4C3-related disorder	GLikely benign
Select item 2656296	NM_003542.4(H4C3):c.23G>C (p.Gly8Ala)	H4C3 (G8A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3233630	NM_003542.4(H4C3):c.27del (p.Gly10fs)	H4C3 (G10fs)	Deletion (frameshift variant)	not specified	GUncertain significance
Select item 3103995	NM_003542.4(H4C3):c.34G>T (p.Gly12Trp)	H4C3 (G12W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3034316	NM_003542.4(H4C3):c.42T>C (p.Gly14=)	H4C3	Single nucleotide variant (synonymous variant)	H4C3-related disorder	GBenign
Select item 3103996	NM_003542.4(H4C3):c.86G>A (p.Gly29Asp)	H4C3 (G29D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2443610	NM_003542.4(H4C3):c.98C>G (p.Pro33Arg)	H4C3 (P33R)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2443367	NM_003542.4(H4C3):c.98C>T (p.Pro33Leu)	H4C3 (P33L)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 2580480	NM_003542.4(H4C3):c.104T>C (p.Ile35Thr)	H4C3 (I35T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1243107	NM_003542.4(H4C3):c.105T>C (p.Ile35=)	H4C3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2689193	NM_003542.4(H4C3):c.133A>T (p.Lys45Ter)	H4C3 (K45*)	Single nucleotide variant (nonsense)	Tessadori-van Haaften neurodevelopmental syndrome 1	GUncertain significance
Select item 2597503	NM_003542.4(H4C3):c.136C>A (p.Arg46Ser)	H4C3 (R46S)	Single nucleotide variant (missense variant)	not specified	GLikely pathogenic
Select item 3035811	NM_003542.4(H4C3):c.156T>C (p.Tyr52=)	H4C3	Single nucleotide variant (synonymous variant)	H4C3-related disorder	GLikely benign
Select item 2752352	NM_003542.4(H4C3):c.163A>G (p.Thr55Ala)	H4C3 (T55A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3103993	NM_003542.4(H4C3):c.169G>A (p.Gly57Ser)	H4C3 (G57S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3043652	NM_003542.4(H4C3):c.180G>A (p.Lys60=)	H4C3	Single nucleotide variant (synonymous variant)	H4C3-related disorder	GBenign
Select item 2761000	NM_003542.4(H4C3):c.186C>G (p.Phe62Leu)	H4C3 (F62L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1183621	NM_003542.4(H4C3):c.207C>T (p.Asp69=)	H4C3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3065146	NM_003542.4(H4C3):c.221C>A (p.Thr74Lys)	H4C3 (T74K)	Single nucleotide variant (missense variant)	Tessadori-van Haaften neurodevelopmental syndrome 1	GUncertain significance
Select item 3026533	NM_003542.4(H4C3):c.260T>C (p.Val87Ala)	H4C3 (V87A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3103994	NM_003542.4(H4C3):c.268G>T (p.Ala90Ser)	H4C3 (A90S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3045887	NM_003542.4(H4C3):c.270C>T (p.Ala90=)	H4C3	Single nucleotide variant (synonymous variant)	H4C3-related disorder	GLikely benign
Select item 716026	NM_003542.4(H4C3):c.271C>T (p.Leu91=)	H4C3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1287838	NM_003542.4(H4C3):c.273A>G (p.Leu91=)	H4C3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1699322	NM_003542.4(H4C3):c.274A>G (p.Lys92Glu)	H4C3 (K92E)	Single nucleotide variant (missense variant)	Tessadori-van Haaften neurodevelopmental syndrome 1	GPathogenic
Select item 976699	NM_003542.4(H4C3):c.274A>C (p.Lys92Gln)	H4C3 (K92Q)	Single nucleotide variant (missense variant)	HIST1H4C-associated disorder	GPathogenic
Select item 1342161	NM_003542.4(H4C3):c.275A>G (p.Lys92Arg)	H4C3 (K92R)	Single nucleotide variant (missense variant)	Tessadori-van Haaften neurodevelopmental syndrome 1	GLikely pathogenic
Select item 2656297	NM_003542.4(H4C3):c.294_295dup (p.Tyr99fs)	H4C3 (Y99fs)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 3030693	NM_003542.4(H4C3):c.297T>G (p.Tyr99Ter)	H4C3 (Y99*)	Single nucleotide variant (nonsense)	H4C3-related disorder	GLikely pathogenic
Select item 2443379	NM_003542.4(H4C3):c.305G>A (p.Gly102Asp)	H4C3 (G102D)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
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 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 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
Select item 3360390	NM_003542.4(H4C3):c.230C>G (p.Ala77Gly)	H4C3 (A77G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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Items: 51