33480[HGNC] - ClinVar

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Items: 63

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153085	GRCh38/hg38 2q14.1-14.3(chr2:115302067-129071130)x1	AMMECR1L, BIN1 +254 more	Copy number loss	See cases	GPathogenic
Select item 60184	GRCh38/hg38 2q14.1-21.3(chr2:118086324-134964738)x1	ACMSD, AMER3 +391 more	Copy number loss	See cases	GPathogenic
Select item 60185	GRCh38/hg38 2q14.3(chr2:121824798-128870804)x1	AMMECR1L, BIN1 +121 more	Copy number loss	See cases	GPathogenic
Select item 60186	GRCh38/hg38 2q14.3(chr2:122324343-128371704)x1	LOC115945190, LOC120961783 +101 more	Copy number loss	See cases	GPathogenic
Select item 148393	GRCh38/hg38 2q14.3-21.1(chr2:122847356-129545581)x1	AMMECR1L, BIN1 +116 more	Copy number loss	See cases	GLikely pathogenic
Select item 146132	GRCh38/hg38 2q14.3(chr2:123169989-128460075)x1	AMMECR1L, BIN1 +100 more	Copy number loss	See cases	GPathogenic
Select item 147544	GRCh38/hg38 2q14.3-22.1(chr2:123445762-140592538)x1	ACMSD, AMER3 +336 more	Copy number loss	See cases	GPathogenic
Select item 1180433	NC_000002.12:g.124348648_129410245del	LOC129934710, LOC129934711 +112 more	Deletion	See cases	Gnot provided
Select item 149324	GRCh38/hg38 2q14.3-21.1(chr2:127063206-130527454)x3	AMMECR1L, BIN1 +125 more	Copy number gain	See cases	GUncertain significance
Select item 3079452	NM_001367502.1(CYP27C1):c.1591G>A (p.Val531Met)	CYP27C1 (V366M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484317	NM_001367502.1(CYP27C1):c.1580G>A (p.Gly527Glu)	CYP27C1 (G527E +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2596696	NM_001367502.1(CYP27C1):c.1577G>C (p.Gly526Ala)	CYP27C1 (G361A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079451	NM_001367502.1(CYP27C1):c.1576G>C (p.Gly526Arg)	CYP27C1 (G526R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 716836	NM_001367502.1(CYP27C1):c.1571C>T (p.Thr524Met)	CYP27C1 (T524M +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2302435	NM_001367502.1(CYP27C1):c.1532A>G (p.Gln511Arg)	CYP27C1 (Q346R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2651327	NM_001367502.1(CYP27C1):c.1471C>T (p.Leu491=)	CYP27C1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3079457	NM_001367502.1(CYP27C1):c.1397A>C (p.Asp466Ala)	CYP27C1 (D301A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2229286	NM_001367502.1(CYP27C1):c.1363C>T (p.Arg455Trp)	CYP27C1 (R455W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329771	NM_001367502.1(CYP27C1):c.1348C>T (p.Arg450Trp)	CYP27C1 (R450W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310587	NM_001367502.1(CYP27C1):c.1340A>G (p.Asn447Ser)	CYP27C1 (N447S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337865	NM_001367502.1(CYP27C1):c.1291G>A (p.Gly431Ser)	CYP27C1 (G266S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543711	NM_001367502.1(CYP27C1):c.1273G>C (p.Gly425Arg)	CYP27C1 (G425R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3270540	NM_001367502.1(CYP27C1):c.1243C>T (p.Arg415Trp)	CYP27C1 (R415W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556482	NM_001367502.1(CYP27C1):c.1118G>T (p.Arg373Leu)	CYP27C1 (R373L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3270538	NM_001367502.1(CYP27C1):c.1117C>T (p.Arg373Trp)	CYP27C1 (R373W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3270544	NM_001367502.1(CYP27C1):c.1108A>G (p.Thr370Ala)	CYP27C1 (T205A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3270543	NM_001367502.1(CYP27C1):c.1103A>G (p.Gln368Arg)	CYP27C1 (Q368R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494968	NM_001367502.1(CYP27C1):c.1092C>A (p.His364Gln)	CYP27C1 (H364Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079455	NM_001367502.1(CYP27C1):c.1049C>T (p.Thr350Met)	CYP27C1 (T185M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079454	NM_001367502.1(CYP27C1):c.1039G>A (p.Val347Ile)	CYP27C1 (V182I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292592	NM_001367502.1(CYP27C1):c.964A>G (p.Thr322Ala)	CYP27C1 (T322A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395961	NM_001367502.1(CYP27C1):c.941G>A (p.Arg314Gln)	CYP27C1 (R314Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079453	NM_001367502.1(CYP27C1):c.940C>T (p.Arg314Trp)	CYP27C1 (R149W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232732	NM_001367502.1(CYP27C1):c.938G>A (p.Gly313Asp)	CYP27C1 (G313D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266371	NM_001367502.1(CYP27C1):c.912G>T (p.Arg304Ser)	CYP27C1 (R304S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3270542	NM_001367502.1(CYP27C1):c.876C>G (p.Phe292Leu)	CYP27C1 (F292L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3270539	NM_001367502.1(CYP27C1):c.845G>A (p.Arg282Gln)	CYP27C1 (R117Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605657	NM_001367502.1(CYP27C1):c.812G>C (p.Arg271Thr)	CYP27C1 (R271T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296974	NM_001367502.1(CYP27C1):c.763C>A (p.Leu255Ile)	CYP27C1 (L90I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283677	NM_001367502.1(CYP27C1):c.639T>A (p.Asn213Lys)	CYP27C1 (N213K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079450	NM_001367502.1(CYP27C1):c.596A>G (p.Tyr199Cys)	CYP27C1 (Y199C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253531	NM_001367502.1(CYP27C1):c.530C>A (p.Pro177Gln)	CYP27C1 (P12Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395244	NM_001367502.1(CYP27C1):c.505G>A (p.Val169Ile)	CYP27C1 (V4I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062651	GRCh37/hg19 2q12.2-21.2(chr2:106755586-134302739)x1	ACOXL, ACTR3 +121 more	Copy number loss	not specified	GPathogenic
Select item 3062624	GRCh37/hg19 2q14.3(chr2:125361063-129616153)x3	AMMECR1L, BIN1 +16 more	Copy number gain	not specified	GUncertain significance
Select item 2684675	GRCh37/hg19 2q14.3(chr2:124806439-128906413)x1	AMMECR1L, BIN1 +15 more	Copy number loss	not provided	GUncertain significance
Select item 2422856	NC_000002.11:g.(?_127806102)_(129076137_?)del	AMMECR1L, BIN1 +14 more	Deletion	Thrombophilia due to protein C deficiency, autosomal dominant	GPathogenic
Select item 2422380	NC_000002.11:g.(?_127451420)_(129076137_?)del	AMMECR1L, BIN1 +15 more	Deletion	not provided	GPathogenic
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 1679114	GRCh37/hg19 2q13-22.3(chr2:112475655-145691999)x3	EPB41L5, ERCC3 +120 more	Copy number gain	2q13q22.3 microduplication syndrome	GPathogenic
Select item 1526888	GRCh37/hg19 2q13-14.3(chr2:113188197-128144700)	ACTR3, BIN1 +51 more	Copy number loss	not specified	GPathogenic
Select item 1410231	NC_000002.11:g.(?_127806102)_(128432598_?)del	BIN1, CYP27C1 +7 more	Deletion	Autosomal recessive limb-girdle muscular dystrophy type 2W +1 more	GUncertain significance
Select item 1372140	NC_000002.11:g.(?_127860149)_(128036971_?)dup	BIN1, CYP27C1 +1 more	Duplication	not provided	GUncertain significance
Select item 1340017	GRCh37/hg19 2q13-22.3(chr2:111484468-146333604)x3	GPR39, IL1F10 +122 more	Copy number gain	not provided	GPathogenic
Select item 1339988	GRCh37/hg19 2q14.3-22.2(chr2:122699106-143799629)x1	ACMSD, AMER3 +64 more	Copy number loss	not provided	GPathogenic
Select item 1339795	GRCh37/hg19 2q14.3(chr2:127864458-128083342)x3	BIN1, CYP27C1 +2 more	Copy number gain	not provided	Gnot provided
Select item 929341	GRCh37/hg19 2q14.3-21.2(chr2:122952356-133826358)x1	AMER3, AMMECR1L +44 more	Copy number loss	See cases	GLikely pathogenic
Select item 814297	GRCh37/hg19 2q14.2-14.3(chr2:118872395-128069813)x1	BIN1, PTPN4 +24 more	Copy number loss	not provided	GPathogenic
Select item 524189	Single allele	ACMSD, C2orf27A +486 more	Deletion	not provided	GLikely pathogenic
Select item 523163	GRCh37/hg19 2q12.1-24.3(chr2:104172062-168223828)x1	CCDC74B, CCDC93 +218 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	RGPD4, RGPD5 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	IL1F10, IL1R1 +1214 more	Copy number gain	See cases	GPathogenic
Select item 441676	GRCh37/hg19 2q14.2-22.1(chr2:120571363-141627287)x1	ACMSD, AMER3 +74 more	Copy number loss	See cases	GPathogenic

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Items: 63