14300[HGNC] - ClinVar

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Items: 59

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153415	GRCh38/hg38 3p26.3-22.1(chr3:53308-41381521)x3	ACAA1, ACVR2B +1111 more	Copy number gain	See cases	GPathogenic
Select item 145586	GRCh38/hg38 3p22.3-22.1(chr3:33728406-40662451)x3	ACAA1, ACVR2B +176 more	Copy number gain	See cases	GPathogenic
Select item 3269929	NM_033027.4(CSRNP1):c.1690G>C (p.Ala564Pro)	CSRNP1 (A584P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078360	NM_033027.4(CSRNP1):c.1685C>T (p.Pro562Leu)	CSRNP1 (P582L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533966	NM_033027.4(CSRNP1):c.1684C>T (p.Pro562Ser)	CSRNP1 (P582S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521847	NM_033027.4(CSRNP1):c.1611C>A (p.Phe537Leu)	CSRNP1 (F557L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 156209	NM_033027.4(CSRNP1):c.1432C>T (p.Leu478Phe)	CSRNP1 (L478F +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2602046	NM_033027.4(CSRNP1):c.1430G>A (p.Ser477Asn)	CSRNP1 (S477N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206285	NM_033027.4(CSRNP1):c.1352C>T (p.Ser451Leu)	CSRNP1 (S471L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2267152	NM_033027.4(CSRNP1):c.1322C>T (p.Thr441Ile)	CSRNP1 (T441I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354815	NM_033027.4(CSRNP1):c.1282A>C (p.Ile428Leu)	CSRNP1 (I448L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078358	NM_033027.4(CSRNP1):c.1258C>T (p.Leu420Phe)	CSRNP1 (L420F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510889	NM_033027.4(CSRNP1):c.1240G>T (p.Val414Leu)	CSRNP1 (V414L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216642	NM_033027.4(CSRNP1):c.1178G>A (p.Arg393His)	CSRNP1 (R413H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2231584	NM_033027.4(CSRNP1):c.1177C>T (p.Arg393Cys)	CSRNP1 (R393C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317912	NM_033027.4(CSRNP1):c.1165G>A (p.Asp389Asn)	CSRNP1 (D409N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269930	NM_033027.4(CSRNP1):c.1157T>A (p.Val386Asp)	CSRNP1 (V406D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481478	NM_033027.4(CSRNP1):c.1150C>G (p.Pro384Ala)	CSRNP1 (P384A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373641	NM_033027.4(CSRNP1):c.1150C>T (p.Pro384Ser)	CSRNP1 (P384S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078357	NM_033027.4(CSRNP1):c.1115C>T (p.Pro372Leu)	CSRNP1 (P372L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525069	NM_033027.4(CSRNP1):c.1064C>G (p.Ser355Cys)	CSRNP1 (S355C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333154	NM_033027.4(CSRNP1):c.1025A>T (p.Glu342Val)	CSRNP1 (E342V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333153	NM_033027.4(CSRNP1):c.1024G>A (p.Glu342Lys)	CSRNP1 (E342K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375357	NM_033027.4(CSRNP1):c.919G>A (p.Glu307Lys)	CSRNP1 (E307K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214570	NM_033027.4(CSRNP1):c.892A>G (p.Thr298Ala)	CSRNP1 (T298A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396925	NM_033027.4(CSRNP1):c.842G>A (p.Arg281His)	CSRNP1 (R281H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238207	NM_033027.4(CSRNP1):c.800C>A (p.Pro267His)	CSRNP1 (P287H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078369	NM_033027.4(CSRNP1):c.799C>A (p.Pro267Thr)	CSRNP1 (P287T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461314	NM_033027.4(CSRNP1):c.791C>T (p.Thr264Ile)	CSRNP1 (T264I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269932	NM_033027.4(CSRNP1):c.743A>C (p.Glu248Ala)	CSRNP1 (E248A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078368	NM_033027.4(CSRNP1):c.658G>C (p.Asp220His)	CSRNP1 (D220H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078367	NM_033027.4(CSRNP1):c.613C>T (p.Arg205Trp)	CSRNP1 (R205W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275872	NM_033027.4(CSRNP1):c.586G>T (p.Val196Leu)	CSRNP1 (V216L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236470	NM_033027.4(CSRNP1):c.580G>A (p.Glu194Lys)	CSRNP1 (E194K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269931	NM_033027.4(CSRNP1):c.533C>A (p.Ala178Asp)	CSRNP1 (A198D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316068	NM_033027.4(CSRNP1):c.466C>G (p.Leu156Val)	CSRNP1 (L176V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078365	NM_033027.4(CSRNP1):c.432G>T (p.Leu144Phe)	CSRNP1 (L144F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525056	NM_033027.4(CSRNP1):c.427C>T (p.Arg143Cys)	CSRNP1 (R163C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078364	NM_033027.4(CSRNP1):c.421C>T (p.Arg141Cys)	CSRNP1 (R161C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512770	NM_033027.4(CSRNP1):c.365G>A (p.Arg122His)	CSRNP1 (R142H +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2368816	NM_033027.4(CSRNP1):c.364C>T (p.Arg122Cys)	CSRNP1 (R122C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457716	NM_033027.4(CSRNP1):c.317G>A (p.Arg106His)	CSRNP1 (R106H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238978	NM_033027.4(CSRNP1):c.248G>A (p.Arg83His)	CSRNP1 (R83H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246372	NM_033027.4(CSRNP1):c.245G>C (p.Gly82Ala)	CSRNP1 (G82A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078362	NM_033027.4(CSRNP1):c.239G>A (p.Arg80His)	CSRNP1 (R80H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2534036	NM_033027.4(CSRNP1):c.230G>T (p.Arg77Leu)	CSRNP1 (R97L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210361	NM_033027.4(CSRNP1):c.224G>A (p.Arg75Gln)	CSRNP1 (R75Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555815	NM_033027.4(CSRNP1):c.209T>C (p.Leu70Pro)	CSRNP1 (L70P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078361	NM_033027.4(CSRNP1):c.203C>T (p.Thr68Ile)	CSRNP1 (T68I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309192	NM_033027.4(CSRNP1):c.163C>A (p.Pro55Thr)	CSRNP1 (P55T +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2270371	NM_033027.4(CSRNP1):c.127T>C (p.Trp43Arg)	CSRNP1 (W43R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078370	NM_033027.4(CSRNP1):c.92G>C (p.Arg31Pro)	CSRNP1 (R31P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345792	NM_033027.4(CSRNP1):c.74C>A (p.Ser25Tyr)	CSRNP1 (S45Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078366	NM_033027.4(CSRNP1):c.53C>T (p.Ser18Leu)	CSRNP1 (S18L +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 1455527	NC_000003.11:g.(?_16710965)_(41275270_?)del	AZI2, CCR4 +93 more	Deletion	not provided	GPathogenic
Select item 562760	GRCh37/hg19 3p24.3-21.31(chr3:16923595-45249923)x2,3	ABHD5, ACAA1 +135 more	Copy number gain	not provided	GPathogenic
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	HHLA2, HIGD1A +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 253356	GRCh37/hg19 3p22.2-21.31(chr3:37028313-49929220)x3	ABHD5, ACAA1 +177 more	Copy number gain	See cases	GLikely pathogenic

ClinVar

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Items: 59