"PreventionGenetics, part of Exact Sciences"[submitter] AND "DIAPH1"[g - ClinVar

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Items: 45

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1511434	NM_005219.5(DIAPH1):c.3705G>A (p.Ser1235=)	DIAPH1	Single nucleotide variant (synonymous variant +1 more)	DIAPH1-related disorder +2 more	GLikely benign
Select item 475708	NM_005219.5(DIAPH1):c.3675C>T (p.Ala1225=)	DIAPH1 (P1243L)	Single nucleotide variant (synonymous variant +1 more)	Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome +3 more	GLikely benign
Select item 45215	NM_005219.5(DIAPH1):c.3579C>T (p.Gly1193=)	DIAPH1	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign
Select item 1129130	NM_005219.5(DIAPH1):c.3574+10G>A	DIAPH1	Single nucleotide variant (intron variant)	DIAPH1-related disorder +4 more	GConflicting classifications of pathogenicity
Select item 1154624	NM_005219.5(DIAPH1):c.3574+8G>C	DIAPH1	Single nucleotide variant (intron variant)	DIAPH1-related disorder +2 more	GLikely benign
Select item 1138155	NM_005219.5(DIAPH1):c.3276C>T (p.Ser1092=)	DIAPH1	Single nucleotide variant (synonymous variant)	DIAPH1-related disorder +2 more	GLikely benign
Select item 768039	NM_005219.5(DIAPH1):c.3149-25_3149-12dup	DIAPH1	Duplication (intron variant)	DIAPH1-related disorder +1 more	GLikely benign
Select item 434939	NM_005219.5(DIAPH1):c.3048G>A (p.Lys1016=)	DIAPH1	Single nucleotide variant (synonymous variant)	DIAPH1-related disorder +3 more	GLikely benign
Select item 1016238	NM_005219.5(DIAPH1):c.2903G>A (p.Arg968His)	DIAPH1 (R959H +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 1 +2 more	GUncertain significance
Select item 573683	NM_005219.5(DIAPH1):c.2800C>T (p.Arg934Trp)	DIAPH1 (R934W +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 1 +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)	DIAPH1-related disorder +3 more	GLikely benign
Select item 1141951	NM_005219.5(DIAPH1):c.2436C>T (p.Phe812=)	DIAPH1	Single nucleotide variant (synonymous variant)	DIAPH1-related disorder +2 more	GLikely benign
Select item 1077595	NM_005219.5(DIAPH1):c.2328G>A (p.Glu776=)	DIAPH1	Single nucleotide variant (synonymous variant)	DIAPH1-related disorder +2 more	GLikely benign
Select item 2633631	NM_005219.5(DIAPH1):c.2241G>A (p.Met747Ile)	DIAPH1 (M738I +1 more)	Single nucleotide variant (missense variant)	DIAPH1-related disorder	GUncertain significance
Select item 2633107	NM_005219.5(DIAPH1):c.2143C>G (p.Pro715Ala)	DIAPH1 (P706A +1 more)	Single nucleotide variant (missense variant)	DIAPH1-related disorder	GUncertain significance
Select item 659806	NM_005219.5(DIAPH1):c.2141C>T (p.Pro714Leu)	DIAPH1 (P714L +1 more)	Single nucleotide variant (missense variant)	DIAPH1-related disorder +2 more	GUncertain significance
Select item 351290	NM_005219.5(DIAPH1):c.2032C>T (p.Pro678Ser)	DIAPH1 (P678S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GBenign/Likely benign
Select item 542368	NM_005219.5(DIAPH1):c.1964C>G (p.Pro655Arg)	DIAPH1 (P655R +1 more)	Single nucleotide variant (missense variant)	DIAPH1-related disorder +3 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)	not provided +3 more	GUncertain significance
Select item 3044245	NM_005219.5(DIAPH1):c.1917C>T (p.Ile639=)	DIAPH1	Single nucleotide variant (synonymous variant)	DIAPH1-related disorder	GLikely benign
Select item 2629637	NM_005219.5(DIAPH1):c.1901C>T (p.Pro634Leu)	DIAPH1 (P625L +1 more)	Single nucleotide variant (missense variant)	DIAPH1-related disorder	GUncertain significance
Select item 542361	NM_005219.5(DIAPH1):c.1821TCC[14] (p.Pro618_Pro620dup)	DIAPH1	Microsatellite (inframe_insertion)	DIAPH1-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 226564	NM_005219.5(DIAPH1):c.1821TCC[12] (p.Pro620dup)	DIAPH1	Microsatellite (inframe_insertion)	not specified +3 more	GBenign/Likely benign
Select item 226563	NM_005219.5(DIAPH1):c.1821TCC[10] (p.Pro620del)	DIAPH1 (P620del +1 more)	Microsatellite (inframe_deletion)	not specified +3 more	GBenign
Select item 227300	NM_005219.5(DIAPH1):c.1769G>T (p.Gly590Val)	DIAPH1 (G590V +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 542358	NM_005219.5(DIAPH1):c.1748C>G (p.Pro583Arg)	DIAPH1 (P574R +1 more)	Single nucleotide variant (missense variant)	DIAPH1-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 194639	NM_005219.5(DIAPH1):c.1736G>A (p.Arg579His)	DIAPH1 (R579H +1 more)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 1513331	NM_005219.5(DIAPH1):c.1613A>C (p.Glu538Ala)	DIAPH1 (E538A +1 more)	Single nucleotide variant (missense variant)	DIAPH1-related disorder +2 more	GUncertain significance
Select item 163073	NM_005219.5(DIAPH1):c.1523A>G (p.Asp508Gly)	DIAPH1 (D508G +1 more)	Single nucleotide variant (missense variant)	Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome +3 more	GBenign/Likely benign
Select item 2631470	NM_005219.5(DIAPH1):c.1511del (p.Lys504fs)	DIAPH1 (K495fs +1 more)	Deletion (frameshift variant)	DIAPH1-related disorder	GLikely pathogenic
Select item 259674	NM_005219.5(DIAPH1):c.1461+20G>A	DIAPH1	Single nucleotide variant (intron variant)	not specified +3 more	GBenign
Select item 163074	NM_005219.5(DIAPH1):c.1364G>A (p.Arg455Gln)	DIAPH1 (R455Q +1 more)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance
Select item 1405881	NM_005219.5(DIAPH1):c.1258G>A (p.Val420Ile)	DIAPH1 (V411I +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 1 +2 more	GUncertain significance
Select item 178605	NM_005219.5(DIAPH1):c.891G>A (p.Pro297=)	DIAPH1	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign
Select item 3032518	NM_005219.5(DIAPH1):c.880C>T (p.Arg294Cys)	DIAPH1 (R285C +1 more)	Single nucleotide variant (missense variant)	DIAPH1-related disorder	GUncertain significance
Select item 2940205	NM_005219.5(DIAPH1):c.736A>G (p.Arg246Gly)	DIAPH1 (R237G +1 more)	Single nucleotide variant (missense variant)	DIAPH1-related disorder +2 more	GUncertain significance
Select item 1516334	NM_005219.5(DIAPH1):c.684+6A>G	DIAPH1	Single nucleotide variant (intron variant)	Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome +2 more	GConflicting classifications of pathogenicity
Select item 351302	NM_005219.5(DIAPH1):c.627C>T (p.Tyr209=)	DIAPH1	Single nucleotide variant (synonymous variant)	Autosomal dominant nonsyndromic hearing loss 1 +3 more	GConflicting classifications of pathogenicity
Select item 163077	NM_005219.5(DIAPH1):c.402+12del	DIAPH1	Deletion (intron variant)	Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome +4 more	GConflicting classifications of pathogenicity
Select item 163078	NM_005219.5(DIAPH1):c.390C>T (p.Tyr130=)	DIAPH1	Single nucleotide variant (synonymous variant)	Autosomal dominant nonsyndromic hearing loss 1 +3 more	GBenign
Select item 351304	NM_005219.5(DIAPH1):c.301-5C>T	DIAPH1	Single nucleotide variant (intron variant)	Autosomal dominant nonsyndromic hearing loss 1 +3 more	GConflicting classifications of pathogenicity
Select item 351306	NM_005219.5(DIAPH1):c.200C>T (p.Ala67Val)	DIAPH1 (A67V +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GBenign/Likely benign
Select item 45212	NM_005219.5(DIAPH1):c.117+14C>T	DIAPH1	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 351307	NM_005219.5(DIAPH1):c.-22G>T	DIAPH1	Single nucleotide variant (5 prime UTR variant)	DIAPH1-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 3045443	NM_005219.5(DIAPH1):c.-31C>G	DIAPH1	Single nucleotide variant (5 prime UTR variant)	DIAPH1-related disorder	GLikely benign

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Items: 45