"PreventionGenetics, part of Exact Sciences"[submitter] AND "CSMD1"[ge - ClinVar

Search results

Items: 92

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2637072	NM_033225.6(CSMD1):c.10607A>T (p.Asn3536Ile)	CSMD1, LOC105377785 (N3536I)	Single nucleotide variant (missense variant)	CSMD1-related disorder	GUncertain significance
Select item 3038258	NM_033225.6(CSMD1):c.10433G>A (p.Ser3478Asn)	CSMD1, LOC105377785 (S3478N)	Single nucleotide variant (missense variant)	CSMD1-related disorder	GBenign
Select item 3045826	NM_033225.6(CSMD1):c.10405C>G (p.Pro3469Ala)	CSMD1, LOC105377785 (P3469A)	Single nucleotide variant (missense variant)	CSMD1-related disorder	GBenign
Select item 3039975	NM_033225.6(CSMD1):c.10403-4A>G	CSMD1, LOC105377785	Single nucleotide variant (intron variant)	CSMD1-related disorder	GLikely benign
Select item 2632339	NM_033225.6(CSMD1):c.10314+1G>A	CSMD1, LOC105377785	Single nucleotide variant (splice donor variant)	CSMD1-related disorder	GUncertain significance
Select item 3042953	NM_033225.6(CSMD1):c.10170C>T (p.Ser3390=)	CSMD1, LOC105377785	Single nucleotide variant (synonymous variant)	CSMD1-related disorder	GLikely benign
Select item 3060738	NM_033225.6(CSMD1):c.10107A>T (p.Gln3369His)	CSMD1, LOC105377785 (Q3369H)	Single nucleotide variant (missense variant)	CSMD1-related disorder	GBenign
Select item 2658316	NM_033225.6(CSMD1):c.10059C>T (p.Phe3353=)	CSMD1, LOC105377785	Single nucleotide variant (synonymous variant)	CSMD1-related disorder +1 more	GLikely benign
Select item 3035186	NM_033225.6(CSMD1):c.9739T>C (p.Tyr3247His)	CSMD1, LOC105377785 (Y3247H)	Single nucleotide variant (missense variant)	CSMD1-related disorder	GUncertain significance
Select item 3044563	NM_033225.6(CSMD1):c.9723C>G (p.Phe3241Leu)	CSMD1, LOC105377785 (F3241L)	Single nucleotide variant (missense variant)	CSMD1-related disorder	GLikely benign
Select item 3039755	NM_033225.6(CSMD1):c.9570C>T (p.Ser3190=)	CSMD1, LOC105377785	Single nucleotide variant (synonymous variant)	CSMD1-related disorder	GLikely benign
Select item 734131	NM_033225.6(CSMD1):c.9532T>G (p.Phe3178Val)	CSMD1, LOC105377785 (F3178V)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 2637321	NM_033225.6(CSMD1):c.9311A>G (p.Gln3104Arg)	CSMD1, LOC105377785 (Q3104R)	Single nucleotide variant (missense variant)	CSMD1-related disorder	GUncertain significance
Select item 3039728	NM_033225.6(CSMD1):c.9303G>A (p.Pro3101=)	LOC105377785, CSMD1	Single nucleotide variant (synonymous variant)	CSMD1-related disorder	GBenign
Select item 3041774	NM_033225.6(CSMD1):c.9300G>A (p.Pro3100=)	CSMD1, LOC105377785	Single nucleotide variant (synonymous variant)	CSMD1-related disorder	GLikely benign
Select item 726079	NM_033225.6(CSMD1):c.9251G>C (p.Arg3084Thr)	CSMD1, LOC105377785 (R3084T)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 2630700	NM_033225.6(CSMD1):c.9214_9219del (p.Val3072_Thr3073del)	CSMD1, LOC105377785	Deletion (inframe_deletion)	CSMD1-related disorder	GUncertain significance
Select item 2630001	NM_033225.6(CSMD1):c.9181T>C (p.Tyr3061His)	CSMD1, LOC105377785 (Y3061H)	Single nucleotide variant (missense variant)	CSMD1-related disorder	GUncertain significance
Select item 2631512	NM_033225.6(CSMD1):c.9097A>C (p.Thr3033Pro)	CSMD1, LOC105377785 (T3033P)	Single nucleotide variant (missense variant)	CSMD1-related disorder	GUncertain significance
Select item 721279	NM_033225.6(CSMD1):c.8935G>A (p.Gly2979Ser)	CSMD1, LOC105377785 (G2979S)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 2632211	NM_033225.6(CSMD1):c.8759G>T (p.Cys2920Phe)	CSMD1, LOC105377785 (C2920F)	Single nucleotide variant (missense variant)	CSMD1-related disorder	GUncertain significance
Select item 1695221	NM_033225.6(CSMD1):c.8740+5G>A	CSMD1, LOC105377785	Single nucleotide variant (intron variant)	CSMD1-related disorder +1 more	GBenign
Select item 3031038	NM_033225.6(CSMD1):c.8594del (p.Pro2865fs)	CSMD1, LOC105377785 (P2865fs)	Deletion (frameshift variant)	CSMD1-related disorder	GUncertain significance
Select item 769338	NM_033225.6(CSMD1):c.8250T>C (p.Asn2750=)	CSMD1, LOC105377785	Single nucleotide variant (synonymous variant)	CSMD1-related disorder +1 more	GBenign/Likely benign
Select item 3050128	NM_033225.6(CSMD1):c.8136T>C (p.Leu2712=)	CSMD1, LOC105377785	Single nucleotide variant (non-coding transcript variant +1 more)	CSMD1-related disorder	GLikely benign
Select item 3049552	NM_033225.6(CSMD1):c.7854A>T (p.Arg2618=)	CSMD1	Single nucleotide variant (synonymous variant)	CSMD1-related disorder	GLikely benign
Select item 3032692	NM_033225.6(CSMD1):c.7749A>G (p.Gln2583=)	CSMD1	Single nucleotide variant (synonymous variant)	CSMD1-related disorder	GLikely benign
Select item 3050995	NM_033225.6(CSMD1):c.7679T>C (p.Ile2560Thr)	CSMD1 (I2560T)	Single nucleotide variant (missense variant)	CSMD1-related disorder	GUncertain significance
Select item 3038908	NM_033225.6(CSMD1):c.7569G>A (p.Glu2523=)	CSMD1	Single nucleotide variant (synonymous variant)	CSMD1-related disorder	GBenign
Select item 3033789	NM_033225.6(CSMD1):c.7490T>A (p.Ile2497Asn)	CSMD1 (I2497N)	Single nucleotide variant (missense variant)	CSMD1-related disorder	GUncertain significance
Select item 3058594	NM_033225.6(CSMD1):c.7285+5G>C	CSMD1	Single nucleotide variant (intron variant)	CSMD1-related disorder	GLikely benign
Select item 2658329	NM_033225.6(CSMD1):c.7212G>C (p.Arg2404Ser)	CSMD1 (R2404S)	Single nucleotide variant (missense variant)	CSMD1-related disorder +1 more	GBenign
Select item 750544	NM_033225.6(CSMD1):c.6757T>C (p.Phe2253Leu)	CSMD1, LOC126860285 (F2253L)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 776279	NM_033225.6(CSMD1):c.6753C>T (p.His2251=)	CSMD1	Single nucleotide variant (synonymous variant)	CSMD1-related disorder +1 more	GBenign
Select item 3044992	NM_033225.6(CSMD1):c.5919C>G (p.Thr1973=)	CSMD1	Single nucleotide variant (synonymous variant)	CSMD1-related disorder	GLikely benign
Select item 3033740	NM_033225.6(CSMD1):c.5808G>A (p.Val1936=)	CSMD1	Single nucleotide variant (synonymous variant)	CSMD1-related disorder	GLikely benign
Select item 718541	NM_033225.6(CSMD1):c.5583T>C (p.Gly1861=)	CSMD1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 3058187	NM_033225.6(CSMD1):c.5466C>T (p.Tyr1822=)	CSMD1	Single nucleotide variant (synonymous variant)	CSMD1-related disorder	GLikely benign
Select item 3045135	NM_033225.6(CSMD1):c.5448C>T (p.Pro1816=)	CSMD1	Single nucleotide variant (synonymous variant)	CSMD1-related disorder	GBenign
Select item 710690	NM_033225.6(CSMD1):c.5344C>A (p.Gln1782Lys)	CSMD1 (Q1782K)	Single nucleotide variant (missense variant)	CSMD1-related disorder +1 more	GBenign/Likely benign
Select item 3039885	NM_033225.6(CSMD1):c.5217C>G (p.Thr1739=)	CSMD1	Single nucleotide variant (synonymous variant)	CSMD1-related disorder	GLikely benign
Select item 2628945	NM_033225.6(CSMD1):c.5154G>T (p.Lys1718Asn)	CSMD1 (K1718N)	Single nucleotide variant (missense variant)	CSMD1-related disorder	GUncertain significance
Select item 2635906	NM_033225.6(CSMD1):c.5117C>G (p.Ala1706Gly)	CSMD1 (A1706G)	Single nucleotide variant (missense variant)	CSMD1-related disorder	GUncertain significance
Select item 2341207	NM_033225.6(CSMD1):c.4838C>T (p.Ser1613Phe)	CSMD1 (S1613F)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2636995	NM_033225.6(CSMD1):c.4735G>A (p.Asp1579Asn)	CSMD1 (D1579N)	Single nucleotide variant (missense variant)	CSMD1-related disorder	GUncertain significance
Select item 2635465	NM_033225.6(CSMD1):c.4720A>G (p.Thr1574Ala)	CSMD1 (T1574A)	Single nucleotide variant (missense variant)	CSMD1-related disorder	GUncertain significance
Select item 2629559	NM_033225.6(CSMD1):c.4709T>C (p.Ile1570Thr)	CSMD1 (I1570T)	Single nucleotide variant (missense variant)	CSMD1-related disorder	GUncertain significance
Select item 3042763	NM_033225.6(CSMD1):c.4672+8G>A	CSMD1	Single nucleotide variant (intron variant)	CSMD1-related disorder	GBenign
Select item 3035301	NM_033225.6(CSMD1):c.4569C>T (p.Gly1523=)	CSMD1	Single nucleotide variant (synonymous variant)	CSMD1-related disorder	GLikely benign
Select item 2629716	NM_033225.6(CSMD1):c.4447G>A (p.Val1483Met)	CSMD1 (V1483M)	Single nucleotide variant (missense variant)	CSMD1-related disorder	GUncertain significance
Select item 3035738	NM_033225.6(CSMD1):c.4098G>A (p.Leu1366=)	CSMD1	Single nucleotide variant (synonymous variant)	CSMD1-related disorder	GLikely benign
Select item 3042270	NM_033225.6(CSMD1):c.4005G>C (p.Trp1335Cys)	CSMD1 (W1335C)	Single nucleotide variant (missense variant)	CSMD1-related disorder	GUncertain significance
Select item 2284812	NM_033225.6(CSMD1):c.3946A>C (p.Ile1316Leu)	CSMD1 (I1316L)	Single nucleotide variant (missense variant)	CSMD1-related disorder +1 more	GUncertain significance
Select item 2632945	NM_033225.6(CSMD1):c.3887C>T (p.Ala1296Val)	CSMD1 (A1296V)	Single nucleotide variant (missense variant)	CSMD1-related disorder	GUncertain significance
Select item 3036153	NM_033225.6(CSMD1):c.3851C>T (p.Ala1284Val)	CSMD1 (A1284V)	Single nucleotide variant (missense variant)	CSMD1-related disorder	GLikely benign
Select item 3051885	NM_033225.6(CSMD1):c.3744C>T (p.Tyr1248=)	CSMD1	Single nucleotide variant (synonymous variant)	CSMD1-related disorder	GLikely benign
Select item 3034534	NM_033225.6(CSMD1):c.3675C>T (p.Tyr1225=)	CSMD1	Single nucleotide variant (synonymous variant)	CSMD1-related disorder	GLikely benign
Select item 711483	NM_033225.6(CSMD1):c.3643G>T (p.Val1215Leu)	CSMD1 (V1215L)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 707983	NM_033225.6(CSMD1):c.3033C>T (p.Gly1011=)	CSMD1	Single nucleotide variant (synonymous variant)	CSMD1-related disorder +1 more	GBenign
Select item 3035357	NM_033225.6(CSMD1):c.3000C>A (p.Thr1000=)	CSMD1	Single nucleotide variant (synonymous variant)	CSMD1-related disorder	GLikely benign
Select item 788547	NM_033225.6(CSMD1):c.2811G>C (p.Lys937Asn)	CSMD1 (K937N)	Single nucleotide variant (missense variant)	CSMD1-related disorder +1 more	GBenign/Likely benign
Select item 3056709	NM_033225.6(CSMD1):c.2744G>A (p.Arg915Lys)	CSMD1 (R915K)	Single nucleotide variant (missense variant)	CSMD1-related disorder	GBenign
Select item 2635629	NM_033225.6(CSMD1):c.2729C>G (p.Pro910Arg)	CSMD1 (P910R)	Single nucleotide variant (missense variant)	CSMD1-related disorder	GLikely pathogenic
Select item 3046760	NM_033225.6(CSMD1):c.2725G>A (p.Glu909Lys)	CSMD1 (E909K)	Single nucleotide variant (missense variant)	CSMD1-related disorder	GLikely benign
Select item 3049976	NM_033225.6(CSMD1):c.2702C>T (p.Pro901Leu)	CSMD1 (P901L)	Single nucleotide variant (missense variant)	CSMD1-related disorder	GLikely benign
Select item 3035620	NM_033225.6(CSMD1):c.2610G>A (p.Ser870=)	CSMD1	Single nucleotide variant (synonymous variant)	CSMD1-related disorder	GLikely benign
Select item 788699	NM_033225.6(CSMD1):c.2580C>T (p.Leu860=)	CSMD1	Single nucleotide variant (synonymous variant)	CSMD1-related disorder +1 more	GBenign
Select item 3049356	NM_033225.6(CSMD1):c.2157T>G (p.Val719=)	CSMD1	Single nucleotide variant (synonymous variant)	CSMD1-related disorder	GLikely benign
Select item 2631054	NM_033225.6(CSMD1):c.1649C>G (p.Thr550Ser)	CSMD1 (T550S)	Single nucleotide variant (missense variant)	CSMD1-related disorder	GUncertain significance
Select item 3058087	NM_033225.6(CSMD1):c.1562-8A>G	CSMD1	Single nucleotide variant (intron variant)	CSMD1-related disorder	GLikely benign
Select item 3058689	NM_033225.6(CSMD1):c.1561+5G>C	CSMD1	Single nucleotide variant (intron variant)	CSMD1-related disorder	GLikely benign
Select item 3052396	NM_033225.6(CSMD1):c.1381C>A (p.Arg461=)	CSMD1, LOC126860287	Single nucleotide variant (synonymous variant)	CSMD1-related disorder	GLikely benign
Select item 2658346	NM_033225.6(CSMD1):c.1284G>A (p.Pro428=)	CSMD1	Single nucleotide variant (synonymous variant)	CSMD1-related disorder +1 more	GLikely benign
Select item 731437	NM_033225.6(CSMD1):c.1223-7T>C	CSMD1	Single nucleotide variant (intron variant)	CSMD1-related disorder +1 more	GBenign/Likely benign
Select item 3050311	NM_033225.6(CSMD1):c.1209G>A (p.Arg403=)	CSMD1	Single nucleotide variant (synonymous variant)	CSMD1-related disorder	GLikely benign
Select item 3035287	NM_033225.6(CSMD1):c.1098-8C>T	CSMD1	Single nucleotide variant (intron variant)	CSMD1-related disorder	GLikely benign
Select item 2628442	NM_033225.6(CSMD1):c.923A>T (p.Gln308Leu)	CSMD1 (Q308L)	Single nucleotide variant (missense variant)	CSMD1-related disorder	GUncertain significance
Select item 3048669	NM_033225.6(CSMD1):c.885C>T (p.Thr295=)	CSMD1	Single nucleotide variant (synonymous variant)	CSMD1-related disorder	GLikely benign
Select item 712967	NM_033225.6(CSMD1):c.818+10G>C	CSMD1	Single nucleotide variant (intron variant)	CSMD1-related disorder +1 more	GLikely benign
Select item 2628725	NM_033225.6(CSMD1):c.767A>G (p.Glu256Gly)	CSMD1 (E256G)	Single nucleotide variant (missense variant)	CSMD1-related disorder	GUncertain significance
Select item 3025359	NM_033225.6(CSMD1):c.684C>T (p.Tyr228=)	CSMD1	Single nucleotide variant (synonymous variant)	CSMD1-related disorder +1 more	GLikely benign
Select item 3052991	NM_033225.6(CSMD1):c.659C>T (p.Ser220Phe)	CSMD1 (S220F)	Single nucleotide variant (missense variant)	CSMD1-related disorder	GLikely benign
Select item 3049406	NM_033225.6(CSMD1):c.657C>T (p.Ile219=)	CSMD1	Single nucleotide variant (synonymous variant)	CSMD1-related disorder	GLikely benign
Select item 741183	NM_033225.6(CSMD1):c.582G>A (p.Ser194=)	CSMD1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2583058	NM_033225.6(CSMD1):c.543C>T (p.Ala181=)	CSMD1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 3053081	NM_033225.6(CSMD1):c.540C>T (p.His180=)	CSMD1	Single nucleotide variant (synonymous variant)	CSMD1-related disorder	GLikely benign
Select item 2583059	NM_033225.6(CSMD1):c.516C>T (p.Leu172=)	CSMD1	Single nucleotide variant (synonymous variant)	CSMD1-related disorder +1 more	GBenign
Select item 3052618	NM_033225.6(CSMD1):c.477G>A (p.Thr159=)	CSMD1	Single nucleotide variant (synonymous variant)	CSMD1-related disorder	GLikely benign
Select item 748878	NM_033225.6(CSMD1):c.384G>A (p.Val128=)	CSMD1	Single nucleotide variant (synonymous variant)	CSMD1-related disorder +1 more	GLikely benign
Select item 3061725	NM_033225.6(CSMD1):c.379G>T (p.Ala127Ser)	CSMD1 (A127S)	Single nucleotide variant (missense variant)	CSMD1-related disorder	GUncertain significance
Select item 3037655	NM_033225.6(CSMD1):c.261A>G (p.Ser87=)	CSMD1	Single nucleotide variant (synonymous variant)	CSMD1-related disorder	GBenign
Select item 3051743	NM_033225.6(CSMD1):c.186C>T (p.Ile62=)	CSMD1	Single nucleotide variant (synonymous variant)	CSMD1-related disorder	GLikely benign

ClinVar

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Items: 92