H1-1[gene] - ClinVar

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Items: 50

	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 2656291	NM_005325.4(H1-1):c.603G>A (p.Lys201=)	H1-1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3103457	NM_005325.4(H1-1):c.589G>T (p.Ala197Ser)	H1-1 (A197S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2610646	NM_005325.4(H1-1):c.588G>C (p.Lys196Asn)	H1-1 (K196N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552626	NM_005325.4(H1-1):c.541G>A (p.Ala181Thr)	H1-1 (A181T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103454	NM_005325.4(H1-1):c.494C>T (p.Ser165Phe)	H1-1 (S165F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103453	NM_005325.4(H1-1):c.472A>G (p.Lys158Glu)	H1-1 (K158E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283248	NM_005325.4(H1-1):c.323T>C (p.Phe108Ser)	H1-1 (F108S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103451	NM_005325.4(H1-1):c.307G>C (p.Gly103Arg)	H1-1 (G103R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103450	NM_005325.4(H1-1):c.281G>A (p.Gly94Glu)	H1-1 (G94E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103449	NM_005325.4(H1-1):c.266G>A (p.Ser89Asn)	H1-1 (S89N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103448	NM_005325.4(H1-1):c.259A>C (p.Ile87Leu)	H1-1 (I87L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2609288	NM_005325.4(H1-1):c.218G>A (p.Gly73Asp)	H1-1 (G73D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611747	NM_005325.4(H1-1):c.200A>T (p.Lys67Met)	H1-1 (K67M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103446	NM_005325.4(H1-1):c.194T>C (p.Leu65Pro)	H1-1 (L65P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103445	NM_005325.4(H1-1):c.193C>T (p.Leu65Phe)	H1-1 (L65F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103443	NM_005325.4(H1-1):c.158C>T (p.Ser53Phe)	H1-1 (S53F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103442	NM_005325.4(H1-1):c.155C>T (p.Ser52Phe)	H1-1 (S52F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588031	NM_005325.4(H1-1):c.148G>A (p.Ala50Thr)	H1-1 (A50T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103441	NM_005325.4(H1-1):c.142G>A (p.Val48Met)	H1-1 (V48M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103440	NM_005325.4(H1-1):c.133G>A (p.Glu45Lys)	H1-1 (E45K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457706	NM_005325.4(H1-1):c.127G>A (p.Val43Met)	H1-1 (V43M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103438	NM_005325.4(H1-1):c.122C>T (p.Pro41Leu)	H1-1 (P41L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103436	NM_005325.4(H1-1):c.106A>G (p.Lys36Glu)	H1-1 (K36E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283247	NM_005325.4(H1-1):c.103A>G (p.Lys35Glu)	H1-1 (K35E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283242	NM_005325.4(H1-1):c.79C>T (p.Pro27Ser)	H1-1 (P27S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2617274	NM_005325.4(H1-1):c.78A>C (p.Lys26Asn)	H1-1 (K26N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283245	NM_005325.4(H1-1):c.71C>A (p.Ala24Glu)	H1-1 (A24E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103460	NM_005325.4(H1-1):c.69G>C (p.Lys23Asn)	H1-1 (K23N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103459	NM_005325.4(H1-1):c.64A>G (p.Lys22Glu)	H1-1 (K22E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103458	NM_005325.4(H1-1):c.62G>C (p.Gly21Ala)	H1-1 (G21A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3103455	NM_005325.4(H1-1):c.53C>T (p.Pro18Leu)	H1-1 (P18L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103452	NM_005325.4(H1-1):c.35C>T (p.Ser12Phe)	H1-1 (S12F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2656292	NM_005325.4(H1-1):c.30C>T (p.Ala10=)	H1-1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3283246	NM_005325.4(H1-1):c.29C>T (p.Ala10Val)	H1-1 (A10V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461688	NM_005325.4(H1-1):c.28G>A (p.Ala10Thr)	H1-1 (A10T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103447	NM_005325.4(H1-1):c.22G>T (p.Ala8Ser)	H1-1 (A8S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103444	NM_005325.4(H1-1):c.16C>T (p.Pro6Ser)	H1-1 (P6S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103437	NM_005325.4(H1-1):c.11C>G (p.Thr4Arg)	H1-1 (T4R)	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

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Items: 50