CSRNP2[gene] - ClinVar

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Items: 47

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	ACAD10, ACADS +4836 more	Copy number gain	See cases	GPathogenic
Select item 153751	GRCh38/hg38 12q13.12-13.13(chr12:50122359-53248460)x1	LOC130007898, LOC130007899 +206 more	Copy number loss	See cases	GPathogenic
Select item 152062	GRCh38/hg38 12q13.12-13.13(chr12:50633888-52851909)x1	ACVR1B, ACVRL1 +136 more	Copy number loss	See cases	GPathogenic
Select item 2401213	NM_030809.3(CSRNP2):c.1612G>C (p.Glu538Gln)	CSRNP2, LETMD1 (E538Q)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2480519	NM_030809.3(CSRNP2):c.1568C>A (p.Thr523Asn)	CSRNP2, LETMD1 (T523N)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 3078374	NM_030809.3(CSRNP2):c.1555G>A (p.Gly519Arg)	CSRNP2, LETMD1 (G519R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2339034	NM_030809.3(CSRNP2):c.1532G>A (p.Arg511His)	CSRNP2, LETMD1 (R511H)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3078373	NM_030809.3(CSRNP2):c.1531C>T (p.Arg511Cys)	CSRNP2, LETMD1 (R511C)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2373586	NM_030809.3(CSRNP2):c.1522C>G (p.Leu508Val)	CSRNP2, LETMD1 (L508V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3078372	NM_030809.3(CSRNP2):c.1514C>T (p.Pro505Leu)	CSRNP2, LETMD1 (P505L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2236164	NM_030809.3(CSRNP2):c.1493A>T (p.Asp498Val)	CSRNP2, LETMD1 (D498V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2329661	NM_030809.3(CSRNP2):c.1426G>A (p.Gly476Arg)	CSRNP2, LETMD1 (G476R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3269933	NM_030809.3(CSRNP2):c.1324T>A (p.Ser442Thr)	CSRNP2, LETMD1 (S442T)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2378388	NM_030809.3(CSRNP2):c.1304G>C (p.Gly435Ala)	CSRNP2, LETMD1 (G435A)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2374470	NM_030809.3(CSRNP2):c.1288G>A (p.Val430Met)	CSRNP2, LETMD1 (V430M)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2343582	NM_030809.3(CSRNP2):c.1284G>T (p.Leu428Phe)	CSRNP2, LETMD1 (L428F)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3078371	NM_030809.3(CSRNP2):c.1236G>C (p.Leu412Phe)	CSRNP2, LETMD1 (L412F)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2322343	NM_030809.3(CSRNP2):c.1225C>G (p.Pro409Ala)	CSRNP2, LETMD1 (P409A)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2471378	NM_030809.3(CSRNP2):c.1214C>T (p.Thr405Met)	CSRNP2, LETMD1 (T405M)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3269937	NM_030809.3(CSRNP2):c.1213A>G (p.Thr405Ala)	CSRNP2, LETMD1 (T405A)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 2371993	NM_030809.3(CSRNP2):c.1145A>G (p.Gln382Arg)	CSRNP2, LETMD1 (Q382R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2367550	NM_030809.3(CSRNP2):c.1072G>A (p.Val358Met)	CSRNP2, LETMD1 (V358M)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2210788	NM_030809.3(CSRNP2):c.1060G>A (p.Glu354Lys)	CSRNP2, LETMD1 (E354K)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3269935	NM_030809.3(CSRNP2):c.1030G>T (p.Gly344Cys)	CSRNP2, LETMD1 (G344C)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3269936	NM_030809.3(CSRNP2):c.868C>G (p.Pro290Ala)	CSRNP2, LETMD1 (P290A)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2520606	NM_030809.3(CSRNP2):c.865G>A (p.Ala289Thr)	CSRNP2, LETMD1 (A289T)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2311164	NM_030809.3(CSRNP2):c.845G>A (p.Arg282Gln)	CSRNP2, LETMD1 (R282Q)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3078378	NM_030809.3(CSRNP2):c.787A>G (p.Ile263Val)	CSRNP2, LETMD1 (I263V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2488396	NM_030809.3(CSRNP2):c.764C>T (p.Ala255Val)	CSRNP2, LETMD1 (A255V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2381798	NM_030809.3(CSRNP2):c.653G>A (p.Arg218Gln)	CSRNP2, LETMD1 (R218Q)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3269934	NM_030809.3(CSRNP2):c.551G>A (p.Arg184Gln)	CSRNP2, LETMD1 (R184Q)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2258906	NM_030809.3(CSRNP2):c.541A>G (p.Lys181Glu)	CSRNP2, LETMD1 (K181E)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2247440	NM_030809.3(CSRNP2):c.293G>A (p.Arg98His)	CSRNP2 (R98H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3078376	NM_030809.3(CSRNP2):c.209A>G (p.Gln70Arg)	CSRNP2 (Q70R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2474752	NM_030809.3(CSRNP2):c.188G>A (p.Arg63Lys)	CSRNP2 (R63K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3078375	NM_030809.3(CSRNP2):c.185G>A (p.Arg62Gln)	CSRNP2 (R62Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2512679	NM_030809.3(CSRNP2):c.170G>A (p.Arg57Gln)	CSRNP2 (R57Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2484633	NM_030809.3(CSRNP2):c.127C>G (p.Pro43Ala)	CSRNP2 (P43A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2395974	NM_030809.3(CSRNP2):c.125A>G (p.Asn42Ser)	CSRNP2 (N42S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2483832	NM_030809.3(CSRNP2):c.36G>T (p.Lys12Asn)	CSRNP2 (K12N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3078377	NM_030809.3(CSRNP2):c.20C>T (p.Ser7Leu)	CSRNP2 (S7L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2511526	NM_030809.3(CSRNP2):c.14C>T (p.Thr5Met)	CSRNP2 (T5M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 563940	GRCh37/hg19 12q13.12-13.13(chr12:51361462-51751521)x3	GALNT6, SLC11A2 +9 more	Copy number gain	not provided	GUncertain significance
Select item 524190	NC_000012.11:g.26370251_54361538inv	BICD1, HDAC7 +212 more	Inversion	not specified	GUncertain significance
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	SLC15A5, SLC16A7 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	GALNT8, H2AJ +1007 more	Copy number gain	See cases	GPathogenic

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Items: 47