11945[HGNC] - ClinVar

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Items: 31

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58112	GRCh38/hg38 1q31.1-42.11(chr1:187143981-224299417)x3	LOC129932539, LOC129932540 +1148 more	Copy number gain	See cases	GPathogenic
Select item 144143	GRCh38/hg38 1q32.1(chr1:200144603-203112078)x1	LOC120893174, LOC122149340 +166 more	Copy number loss	See cases	GPathogenic
Select item 57818	GRCh38/hg38 1q32.1(chr1:201226425-202014204)x3	CSRP1, CSRP1-AS1 +49 more	Copy number gain	See cases	GUncertain significance
Select item 3180525	NM_003281.4(TNNI1):c.548C>G (p.Ser183Cys)	TNNI1 (S183C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3180524	NM_003281.4(TNNI1):c.541G>A (p.Ala181Thr)	TNNI1 (A181T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3327648	NM_003281.4(TNNI1):c.404C>G (p.Ser135Cys)	TNNI1 (S135C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3180523	NM_003281.4(TNNI1):c.361G>T (p.Asp121Tyr)	TNNI1 (D121Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3180522	NM_003281.4(TNNI1):c.328C>T (p.Arg110Cys)	TNNI1 (R110C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3180521	NM_003281.4(TNNI1):c.313C>T (p.Arg105Cys)	TNNI1 (R105C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280099	NM_003281.4(TNNI1):c.248T>C (p.Ile83Thr)	TNNI1 (I83T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394984	NM_003281.4(TNNI1):c.143G>A (p.Arg48His)	TNNI1 (R48H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251409	NM_003281.4(TNNI1):c.142C>T (p.Arg48Cys)	TNNI1 (R48C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2498345	NM_003281.4(TNNI1):c.40C>T (p.Arg14Cys)	TNNI1 (R14C)	Single nucleotide variant (missense variant)	TNNI1-related congenital myopathy	GUncertain significance
Select item 2217135	NM_003281.4(TNNI1):c.13G>A (p.Glu5Lys)	TNNI1 (E5K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3327647	NM_003281.4(TNNI1):c.5C>T (p.Pro2Leu)	TNNI1 (P2L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3248093	NC_000001.10:g.(?_190829412)_(216061974_?)del	RPS6KC1, SERTAD4 +185 more	Deletion	not provided	GPathogenic
Select item 3062955	GRCh37/hg19 1q32.1(chr1:199373229-204335027)x3	ADIPOR1, ADORA1 +58 more	Copy number gain	not specified	GLikely pathogenic
Select item 3062655	GRCh37/hg19 1q31.3-32.1(chr1:197216705-203683110)x1	ADIPOR1, ADORA1 +57 more	Copy number loss	not specified	GLikely pathogenic
Select item 2425293	NC_000001.10:g.(?_200522516)_(206945780_?)dup	ADIPOR1, ADORA1 +90 more	Duplication	Epilepsy, familial adult myoclonic, 5	GUncertain significance
Select item 2422293	NC_000001.10:g.(?_200522516)_(208391267_?)dup	ADIPOR1, ADORA1 +110 more	Duplication	not provided	GUncertain significance
Select item 1809264	GRCh37/hg19 1q25.3-32.3(chr1:181453460-213107248)x3	ASPM, IPO9 +211 more	Copy number gain	not provided	GPathogenic
Select item 1708464	GRCh37/hg19 1q31.3-44(chr1:197867914-249224684)x3	COA6, COG2 +381 more	Copy number gain	See cases	GPathogenic
Select item 1527448	GRCh37/hg19 1q25.2-32.1(chr1:179413479-201764737)	ACBD6, APOBEC4 +98 more	Copy number loss	not specified	GPathogenic
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	FCGR3A, LCE3C +956 more	Duplication	Parathyroid carcinoma +2 more	GUncertain significance
Select item 972964	GRCh37/hg19 1q31.3-32.2(chr1:194356425-210988710)x3	CD34, MDM4 +145 more	Copy number gain	not provided	Gnot provided
Select item 685144	GRCh37/hg19 1q25.3-44(chr1:182388773-249111240)x3	C4BPB, CACNA1S +433 more	Copy number gain	not provided	GPathogenic
Select item 565211	GRCh37/hg19 1q32.1(chr1:200873507-201947585)x3	ASCL5, CACNA1S +15 more	Copy number gain	not provided	GUncertain significance
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 394081	GRCh37/hg19 1q31.3-44(chr1:195483439-249213000)x3	AVPR1B, B3GALNT2 +393 more	Copy number gain	See cases	GPathogenic
Select item 253654	GRCh37/hg19 1q31.3-42.13(chr1:197811907-228997888)x3	ACBD3, ADIPOR1 +242 more	Copy number gain	See cases	GPathogenic

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Items: 31