7552[HGNC] - ClinVar

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Items: 50

	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 3154337	NM_004997.3(MYBPH):c.1397A>G (p.Asp466Gly)	MYBPH (D466G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261509	NM_004997.3(MYBPH):c.1374T>A (p.Asn458Lys)	MYBPH (N458K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2639815	NM_004997.3(MYBPH):c.1332dup (p.Ser445fs)	MYBPH (S445fs)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 3154332	NM_004997.3(MYBPH):c.1325G>A (p.Arg442Gln)	MYBPH (R442Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 732635	NM_004997.3(MYBPH):c.1305C>T (p.Gly435=)	MYBPH	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2569657	NM_004997.3(MYBPH):c.1300C>G (p.Gln434Glu)	MYBPH (Q434E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2616928	NM_004997.3(MYBPH):c.1275C>A (p.Asn425Lys)	MYBPH (N425K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154317	NM_004997.3(MYBPH):c.1132T>C (p.Phe378Leu)	MYBPH (F378L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319533	NM_004997.3(MYBPH):c.1108C>T (p.Pro370Ser)	MYBPH (P370S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603747	NM_004997.3(MYBPH):c.1060G>A (p.Val354Ile)	MYBPH (V354I)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 3154307	NM_004997.3(MYBPH):c.1043T>C (p.Leu348Pro)	MYBPH (L348P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3297242	NM_004997.3(MYBPH):c.968C>T (p.Thr323Ile)	MYBPH (T323I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212395	NM_004997.3(MYBPH):c.956G>A (p.Arg319His)	MYBPH (R319H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3297244	NM_004997.3(MYBPH):c.940T>A (p.Phe314Ile)	MYBPH (F314I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365298	NM_004997.3(MYBPH):c.850G>A (p.Ala284Thr)	MYBPH (A284T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3297243	NM_004997.3(MYBPH):c.839G>C (p.Gly280Ala)	MYBPH (G280A)	Single nucleotide variant (missense variant)	not specified	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 2383295	NM_004997.3(MYBPH):c.748G>A (p.Val250Met)	MYBPH (V250M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2411071	NM_004997.3(MYBPH):c.727C>T (p.Arg243Cys)	MYBPH (R243C)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2299698	NM_004997.3(MYBPH):c.634G>C (p.Gly212Arg)	MYBPH (G212R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545963	NM_004997.3(MYBPH):c.557G>A (p.Arg186His)	MYBPH (R186H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218545	NM_004997.3(MYBPH):c.554T>C (p.Ile185Thr)	MYBPH (I185T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3297245	NM_004997.3(MYBPH):c.542G>C (p.Arg181Pro)	MYBPH (R181P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383932	NM_004997.3(MYBPH):c.542G>A (p.Arg181His)	MYBPH (R181H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2221211	NM_004997.3(MYBPH):c.532C>T (p.Arg178Cys)	MYBPH (R178C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154348	NM_004997.3(MYBPH):c.506T>C (p.Ile169Thr)	MYBPH (I169T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154346	NM_004997.3(MYBPH):c.497G>A (p.Arg166Gln)	MYBPH (R166Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3154345	NM_004997.3(MYBPH):c.473T>C (p.Met158Thr)	MYBPH (M158T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318728	NM_004997.3(MYBPH):c.398G>A (p.Arg133Gln)	MYBPH (R133Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154340	NM_004997.3(MYBPH):c.368G>A (p.Arg123Gln)	MYBPH (R123Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154322	NM_004997.3(MYBPH):c.124G>A (p.Glu42Lys)	MYBPH (E42K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263816	NM_004997.3(MYBPH):c.97G>A (p.Val33Met)	MYBPH (V33M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2256343	NM_004997.3(MYBPH):c.34T>A (p.Cys12Ser)	MYBPH (C12S)	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 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 814155	GRCh37/hg19 1q32.1(chr1:203078722-203210585)x1	CHI3L1, CHIT1 +2 more	Copy number loss	not provided	GUncertain significance
Select item 685144	GRCh37/hg19 1q25.3-44(chr1:182388773-249111240)x3	C4BPB, CACNA1S +433 more	Copy number gain	not provided	GPathogenic
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 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	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

ClinVar

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Items: 50