ClinVar for Gene (Select 4608) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 36

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 2639815	NM_004997.3(MYBPH):c.1332dup (p.Ser445fs)	MYBPH (S445fs)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 2616928	NM_004997.3(MYBPH):c.1275C>A (p.Asn425Lys)	MYBPH (N425K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2603747	NM_004997.3(MYBPH):c.1060G>A (p.Val354Ile)	MYBPH (V354I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2569657	NM_004997.3(MYBPH):c.1300C>G (p.Gln434Glu)	MYBPH (Q434E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2545963	NM_004997.3(MYBPH):c.557G>A (p.Arg186His)	MYBPH (R186H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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	C4BPA, FMOD +110 more	Duplication	not provided	GUncertain significance
Select item 2411071	NM_004997.3(MYBPH):c.727C>T (p.Arg243Cys)	MYBPH (R243C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2383932	NM_004997.3(MYBPH):c.542G>A (p.Arg181His)	MYBPH (R181H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2383295	NM_004997.3(MYBPH):c.748G>A (p.Val250Met)	MYBPH (V250M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2365298	NM_004997.3(MYBPH):c.850G>A (p.Ala284Thr)	MYBPH (A284T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2319533	NM_004997.3(MYBPH):c.1108C>T (p.Pro370Ser)	MYBPH (P370S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2318728	NM_004997.3(MYBPH):c.398G>A (p.Arg133Gln)	MYBPH (R133Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2299698	NM_004997.3(MYBPH):c.634G>C (p.Gly212Arg)	MYBPH (G212R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2263816	NM_004997.3(MYBPH):c.97G>A (p.Val33Met)	MYBPH (V33M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2261509	NM_004997.3(MYBPH):c.1374T>A (p.Asn458Lys)	MYBPH (N458K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2256343	NM_004997.3(MYBPH):c.34T>A (p.Cys12Ser)	MYBPH (C12S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2221211	NM_004997.3(MYBPH):c.532C>T (p.Arg178Cys)	MYBPH (R178C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2218545	NM_004997.3(MYBPH):c.554T>C (p.Ile185Thr)	MYBPH (I185T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2212395	NM_004997.3(MYBPH):c.956G>A (p.Arg319His)	MYBPH (R319H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1809264	GRCh37/hg19 1q25.3-32.3(chr1:181453460-213107248)x3	IGFN1, IKBKE +211 more	Copy number gain	not provided	GPathogenic
Select item 1708464	GRCh37/hg19 1q31.3-44(chr1:197867914-249224684)x3	ABCB10, ACBD3 +381 more	Copy number gain	See cases	GPathogenic
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	KLHL12, LNCATV +956 more	Duplication	Paragangliomas 3 +2 more	GUncertain significance
Select item 972964	GRCh37/hg19 1q31.3-32.2(chr1:194356425-210988710)x3	CSRP1, PPFIA4 +145 more	Copy number gain	not provided	Gnot provided
Select item 814155	GRCh37/hg19 1q32.1(chr1:203078722-203210585)x1	CHI3L1, CHIT1 +2 more	Copy number loss	not provided	GUncertain significance
Select item 732636	NM_004997.3(MYBPH):c.750G>C (p.Val250=)	MYBPH	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 732635	NM_004997.3(MYBPH):c.1305C>T (p.Gly435=)	MYBPH	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 685144	GRCh37/hg19 1q25.3-44(chr1:182388773-249111240)x3	CAPN9, CATSPERE +433 more	Copy number gain	not provided	GPathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	PADI1, PADI2 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	NID1, NIPAL3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 394404	GRCh37/hg19 1q32.1(chr1:203134126-203160335)x3	ADORA1, CHI3L1 +1 more	Copy number gain	See cases	GUncertain significance
Select item 394081	GRCh37/hg19 1q31.3-44(chr1:195483439-249213000)x3	ABCB10, ACBD3 +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
Select item 58112	GRCh38/hg38 1q31.1-42.11(chr1:187143981-224299417)x3	LOC129932244, LOC129932245 +1147 more	Copy number gain	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 36