"GeneDx"[submitter] AND "DIAPH1"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59672	GRCh38/hg38 5q21.3-33.2(chr5:106619588-156124387)x1	ABLIM3, ACSL6 +1672 more	Copy number loss	See cases	GPathogenic
Select item 1185939	NM_005219.5(DIAPH1):c.*5G>T	DIAPH1	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 1311416	NM_005219.5(DIAPH1):c.3812C>T (p.Ala1271Val)	DIAPH1 (A1262V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 542360	NM_005219.5(DIAPH1):c.3809G>A (p.Arg1270His)	DIAPH1 (R1261H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 178606	NM_005219.5(DIAPH1):c.3765G>A (p.Glu1255=)	DIAPH1	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant nonsyndromic hearing loss 1 +2 more	GBenign
Select item 683199	NM_005219.5(DIAPH1):c.3662-24A>G	DIAPH1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1193652	NM_005219.5(DIAPH1):c.3661+163G>T	DIAPH1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 683481	NM_005219.5(DIAPH1):c.3661+69C>T	DIAPH1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1205707	NM_005219.5(DIAPH1):c.3661+34G>A	DIAPH1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 228577	NM_005219.5(DIAPH1):c.3637C>T (p.Arg1213Ter)	DIAPH1 (R1213* +1 more)	Single nucleotide variant (nonsense)	Rare genetic deafness +3 more	GPathogenic
Select item 3366152	NM_005219.5(DIAPH1):c.3623C>T (p.Ser1208Leu)	DIAPH1 (S1199L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 421551	NM_005219.5(DIAPH1):c.3614C>T (p.Ala1205Val)	DIAPH1 (A1196V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 45215	NM_005219.5(DIAPH1):c.3579C>T (p.Gly1193=)	DIAPH1	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 1211113	NM_005219.5(DIAPH1):c.3575-78T>G	DIAPH1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1214529	NM_005219.5(DIAPH1):c.3574+291A>G	DIAPH1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1129130	NM_005219.5(DIAPH1):c.3574+10G>A	DIAPH1	Single nucleotide variant (intron variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 1096112	NM_005219.5(DIAPH1):c.3552G>A (p.Glu1184=)	DIAPH1	Single nucleotide variant (synonymous variant)	Autosomal dominant nonsyndromic hearing loss 1 +2 more	GConflicting classifications of pathogenicity
Select item 1967067	NM_005219.5(DIAPH1):c.3491G>A (p.Arg1164Gln)	DIAPH1 (R1164Q +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 1 +2 more	GUncertain significance
Select item 1304118	NM_005219.5(DIAPH1):c.3467G>A (p.Arg1156Gln)	DIAPH1 (R1147Q +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 1 +2 more	GUncertain significance
Select item 1806701	NM_005219.5(DIAPH1):c.3464G>A (p.Arg1155Gln)	DIAPH1 (R1146Q +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 771084	NM_005219.5(DIAPH1):c.3463C>T (p.Arg1155Trp)	DIAPH1 (R1155W +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GLikely benign
Select item 1202155	NM_005219.5(DIAPH1):c.3439-27G>A	DIAPH1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1042130	NM_005219.5(DIAPH1):c.3425G>A (p.Arg1142Gln)	DIAPH1 (R1142Q +1 more)	Single nucleotide variant (missense variant)	Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome +2 more	GUncertain significance
Select item 1311374	NM_005219.5(DIAPH1):c.3424C>T (p.Arg1142Trp)	DIAPH1 (R1133W +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1325953	NM_005219.5(DIAPH1):c.3410A>T (p.Asp1137Val)	DIAPH1 (D1128V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1016997	NM_005219.5(DIAPH1):c.3314G>A (p.Arg1105Gln)	DIAPH1 (R1096Q +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1190877	NM_005219.5(DIAPH1):c.3274-121T>C	DIAPH1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1248146	NM_005219.5(DIAPH1):c.3274-244_3274-243insAAAAA	DIAPH1	Insertion (intron variant)	not provided	GBenign
Select item 1198115	NM_005219.5(DIAPH1):c.3273+65G>A	DIAPH1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3340378	NM_005219.5(DIAPH1):c.3250G>A (p.Asp1084Asn)	DIAPH1 (D1075N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 226565	NM_005219.5(DIAPH1):c.3227T>G (p.Phe1076Cys)	DIAPH1 (F1076C +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign
Select item 2430865	NM_005219.5(DIAPH1):c.3205G>A (p.Val1069Met)	DIAPH1 (V1060M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1198239	NM_005219.5(DIAPH1):c.3155C>T (p.Ala1052Val)	DIAPH1 (A1043V +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1205048	NM_005219.5(DIAPH1):c.3149-1G>T	DIAPH1	Single nucleotide variant (splice acceptor variant)	not provided	GLikely benign
Select item 1279845	NM_005219.5(DIAPH1):c.3149-25_3149-24dup	DIAPH1	Duplication (intron variant)	not provided	GBenign
Select item 1246209	NM_005219.5(DIAPH1):c.3149-25dup	DIAPH1	Duplication (intron variant)	Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome +2 more	GBenign
Select item 1193128	NM_005219.5(DIAPH1):c.3149-25_3149-22dup	DIAPH1	Duplication (intron variant)	not provided	GLikely benign
Select item 1191157	NM_005219.5(DIAPH1):c.3149-25_3149-23dup	DIAPH1	Duplication (intron variant)	not provided	GLikely benign
Select item 508140	NM_005219.5(DIAPH1):c.3149-3del	DIAPH1	Deletion (intron variant)	not provided +2 more	GBenign
Select item 1212761	NM_005219.5(DIAPH1):c.3149-24T>G	DIAPH1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1183562	NM_005219.5(DIAPH1):c.3149-79T>C	DIAPH1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1218711	NM_005219.5(DIAPH1):c.3149-96G>A	DIAPH1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1204173	NM_005219.5(DIAPH1):c.3148+178T>C	DIAPH1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 217754	NM_005219.5(DIAPH1):c.3145C>T (p.Arg1049Ter)	DIAPH1 (R1049* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2173916	NM_005219.5(DIAPH1):c.3078G>C (p.Leu1026Phe)	DIAPH1 (L1017F +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1307573	NM_005219.5(DIAPH1):c.3054GTT[1] (p.Leu1020del)	DIAPH1 (L1011del +1 more)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 504567	NM_005219.5(DIAPH1):c.3051G>A (p.Met1017Ile)	DIAPH1 (M1008I +1 more)	Single nucleotide variant (missense variant)	Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome +4 more	GUncertain significance
Select item 178340	NM_005219.5(DIAPH1):c.3050T>C (p.Met1017Thr)	DIAPH1 (M1017T +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 681498	NM_005219.5(DIAPH1):c.3027C>T (p.Asp1009=)	DIAPH1	Single nucleotide variant (synonymous variant)	Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome +2 more	GLikely benign
Select item 504168	NM_005219.5(DIAPH1):c.2905_2906dup (p.Ser970fs)	DIAPH1 (S970fs +1 more)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 391928	NM_005219.5(DIAPH1):c.2794C>T (p.Arg932Ter)	DIAPH1 (R923* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 905858	NM_005219.5(DIAPH1):c.2779A>G (p.Met927Val)	DIAPH1 (M918V +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 1 +2 more	GUncertain significance
Select item 1207947	NM_005219.5(DIAPH1):c.2778+27G>T	DIAPH1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 653993	NM_005219.5(DIAPH1):c.2758T>C (p.Ser920Pro)	DIAPH1 (S911P +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1800892	NM_005219.5(DIAPH1):c.2702C>T (p.Pro901Leu)	DIAPH1 (P892L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1304536	NM_005219.5(DIAPH1):c.2685T>G (p.Ile895Met)	DIAPH1 (I886M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1211225	NM_005219.5(DIAPH1):c.2676+21G>A	DIAPH1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1381486	NM_005219.5(DIAPH1):c.2645A>T (p.Asn882Ile)	DIAPH1 (N873I +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 1 +2 more	GUncertain significance
Select item 1243538	NM_005219.5(DIAPH1):c.2581+240A>T	DIAPH1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1218524	NM_005219.5(DIAPH1):c.2581+106A>G	DIAPH1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 163072	NM_005219.5(DIAPH1):c.2525A>C (p.Gln842Pro)	DIAPH1 (Q842P +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 1 +3 more	GBenign
Select item 1187116	NM_005219.5(DIAPH1):c.2483-30A>G	DIAPH1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1203093	NM_005219.5(DIAPH1):c.2483-57G>A	DIAPH1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1187757	NM_005219.5(DIAPH1):c.2483-87G>A	DIAPH1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1189727	NM_005219.5(DIAPH1):c.2482+122G>C	DIAPH1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1198660	NM_005219.5(DIAPH1):c.2482+70G>C	DIAPH1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1186841	NM_005219.5(DIAPH1):c.2474-25C>T	DIAPH1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1220340	NM_005219.5(DIAPH1):c.2474-28T>C	DIAPH1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1202298	NM_005219.5(DIAPH1):c.2473+63T>A	DIAPH1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1723628	NM_005219.5(DIAPH1):c.2461G>T (p.Ala821Ser)	DIAPH1 (A812S +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 715117	NM_005219.5(DIAPH1):c.2437G>A (p.Ala813Thr)	DIAPH1 (A813T +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GLikely benign
Select item 1213517	NM_005219.5(DIAPH1):c.2358+229G>A	DIAPH1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1188733	NM_005219.5(DIAPH1):c.2358+143C>T	DIAPH1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1293725	NM_005219.5(DIAPH1):c.2358+63G>A	DIAPH1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1247854	NM_005219.5(DIAPH1):c.2358+58G>T	DIAPH1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1175591	NM_005219.5(DIAPH1):c.2358+36dup	DIAPH1	Duplication (intron variant)	not provided	GBenign
Select item 1249480	NM_005219.5(DIAPH1):c.2358+57del	DIAPH1	Deletion (intron variant)	not provided	GBenign
Select item 2575822	NM_005219.5(DIAPH1):c.2303C>T (p.Thr768Ile)	DIAPH1 (T759I +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2500544	NM_005219.5(DIAPH1):c.2294T>A (p.Phe765Tyr)	DIAPH1 (F756Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 351287	NM_005219.5(DIAPH1):c.2273C>T (p.Pro758Leu)	DIAPH1 (P758L +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 1 +2 more	GUncertain significance
Select item 945909	NM_005219.5(DIAPH1):c.2261G>A (p.Gly754Glu)	DIAPH1 (G745E +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 542364	NM_005219.5(DIAPH1):c.2224C>G (p.Pro742Ala)	DIAPH1 (P742A +1 more)	Single nucleotide variant (missense variant)	Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome +3 more	GConflicting classifications of pathogenicity
Select item 450432	NM_005219.5(DIAPH1):c.2158C>T (p.Leu720Phe)	DIAPH1 (L711F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 228575	NM_005219.5(DIAPH1):c.2107C>G (p.Pro703Ala)	DIAPH1 (P703A +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 1 +4 more	GConflicting classifications of pathogenicity
Select item 227301	NM_005219.5(DIAPH1):c.2067A>C (p.Pro689=)	DIAPH1	Single nucleotide variant (synonymous variant)	not specified +2 more	GLikely benign
Select item 3368890	NM_005219.5(DIAPH1):c.2054C>T (p.Ala685Val)	DIAPH1 (A676V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3375790	NM_005219.5(DIAPH1):c.2053G>A (p.Ala685Thr)	DIAPH1 (A676T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 351290	NM_005219.5(DIAPH1):c.2032C>T (p.Pro678Ser)	DIAPH1 (P678S +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 1 +3 more	GBenign/Likely benign
Select item 1423802	NM_005219.5(DIAPH1):c.2000CTT[1] (p.Ser668del)	DIAPH1 (S668del +1 more)	Microsatellite (inframe_deletion)	Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome +2 more	GUncertain significance
Select item 475699	NM_005219.5(DIAPH1):c.1985G>A (p.Gly662Asp)	DIAPH1 (G653D +1 more)	Single nucleotide variant (missense variant)	Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome +3 more	GBenign/Likely benign
Select item 1311530	NM_005219.5(DIAPH1):c.1979G>T (p.Gly660Val)	DIAPH1 (G651V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 419689	NM_005219.5(DIAPH1):c.1971_1972delinsT (p.Leu657fs)	DIAPH1 (L657fs +1 more)	Indel (frameshift variant)	not provided	GPathogenic
Select item 542368	NM_005219.5(DIAPH1):c.1964C>G (p.Pro655Arg)	DIAPH1 (P655R +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 844136	NM_005219.5(DIAPH1):c.1963C>G (p.Pro655Ala)	DIAPH1 (P646A +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 1 +2 more	GUncertain significance
Select item 3366258	NM_005219.5(DIAPH1):c.1943A>T (p.Asp648Val)	DIAPH1 (D639V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2314498	NM_005219.5(DIAPH1):c.1927C>G (p.Pro643Ala)	DIAPH1 (P643A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GUncertain significance
Select item 1403451	NM_005219.5(DIAPH1):c.1915A>G (p.Ile639Val)	DIAPH1 (I630V +1 more)	Single nucleotide variant (missense variant)	Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome +2 more	GUncertain significance
Select item 665955	NM_005219.5(DIAPH1):c.1852_1860dup (p.Pro618_Pro620dup)	DIAPH1	Duplication (inframe_insertion)	Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome +2 more	GUncertain significance
Select item 963523	NM_005219.5(DIAPH1):c.1854_1859dup (p.Pro619_Pro620dup)	DIAPH1	Duplication (inframe_insertion)	not provided +2 more	GUncertain significance
Select item 1309747	NM_005219.5(DIAPH1):c.1856C>T (p.Pro619Leu)	DIAPH1 (P610L +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 1 +2 more	GUncertain significance

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