24241[HGNC] - ClinVar

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

Search results

Items: 66

	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 3118408	NM_015416.5(LETMD1):c.10T>A (p.Ser4Thr)	LETMD1 (S4T)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2306855	NM_015416.5(LETMD1):c.17T>C (p.Val6Ala)	LETMD1 (V6A)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3290496	NM_015416.5(LETMD1):c.32C>T (p.Ser11Leu)	LETMD1 (S11L)	Single nucleotide variant (missense variant +3 more)	not specified	GLikely benign
Select item 2387288	NM_015416.5(LETMD1):c.133C>G (p.Leu45Val)	LETMD1 (L52V +1 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2353124	NM_015416.5(LETMD1):c.172T>G (p.Ser58Ala)	LETMD1 (S58A +2 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3118409	NM_015416.5(LETMD1):c.175T>C (p.Tyr59His)	LETMD1 (Y3H +2 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3118410	NM_015416.5(LETMD1):c.179T>C (p.Val60Ala)	LETMD1 (V4A +2 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2235874	NM_015416.5(LETMD1):c.226G>C (p.Gly76Arg)	LETMD1 (G20R +2 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2216294	NM_015416.5(LETMD1):c.230G>A (p.Arg77His)	LETMD1 (R77H +2 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2370972	NM_015416.5(LETMD1):c.238C>T (p.Pro80Ser)	LETMD1 (P24S +2 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2334529	NM_015416.5(LETMD1):c.253C>A (p.Leu85Met)	LETMD1 (L92M +2 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2351854	NM_015416.5(LETMD1):c.415C>T (p.Leu139Phe)	LETMD1 (S100F +5 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2474271	NM_015416.5(LETMD1):c.483T>A (p.Phe161Leu)	LETMD1 (F168L +7 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3118412	NM_015416.5(LETMD1):c.548A>G (p.Tyr183Cys)	LETMD1 (Y66C +7 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3118413	NM_015416.5(LETMD1):c.554C>G (p.Ala185Gly)	LETMD1 (A129G +7 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3118414	NM_015416.5(LETMD1):c.559C>T (p.Arg187Trp)	LETMD1 (R131W +7 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2276320	NM_015416.5(LETMD1):c.601G>T (p.Val201Phe)	LETMD1 (V145F +7 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3290497	NM_015416.5(LETMD1):c.608C>T (p.Pro203Leu)	LETMD1 (P210L +7 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2230067	NM_015416.5(LETMD1):c.634T>C (p.Trp212Arg)	LETMD1 (W118R +7 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2596687	NM_015416.5(LETMD1):c.637C>T (p.Arg213Cys)	LETMD1 (R226C +7 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2396555	NM_015416.5(LETMD1):c.638G>A (p.Arg213His)	LETMD1 (R119H +7 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 2354276	NM_015416.5(LETMD1):c.668G>A (p.Arg223His)	LETMD1 (R223H +9 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 2535123	NM_015416.5(LETMD1):c.671G>T (p.Gly224Val)	LETMD1 (G130V +9 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2358594	NM_015416.5(LETMD1):c.682G>A (p.Ala228Thr)	LETMD1 (A122T +9 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2307447	NM_015416.5(LETMD1):c.760G>A (p.Val254Met)	LETMD1 (V137M +9 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 3118415	NM_015416.5(LETMD1):c.880G>A (p.Gly294Arg)	LETMD1 (G137R +10 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2556375	NM_015416.5(LETMD1):c.949A>G (p.Ile317Val)	LETMD1 (I200V +10 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2460366	NM_015416.5(LETMD1):c.967C>G (p.Arg323Gly)	LETMD1 (R199G +10 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2355927	NM_015416.5(LETMD1):c.1078C>T (p.Arg360Cys)	LETMD1 (R266C +10 more)	Single nucleotide variant (missense variant +4 more)	not specified	GUncertain significance
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 (missense 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 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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 66