ClinVar for Gene (Select 81624) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3380155	NM_001042517.2(DIAPH3):c.170G>T (p.Arg57Leu)	DIAPH3 (R57L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3348375	NM_001042517.2(DIAPH3):c.3499G>A (p.Glu1167Lys)	DIAPH3 (E1097K +3 more)	Single nucleotide variant (missense variant)	DIAPH3-related disorder	GUncertain significance
Select item 3346509	NM_001042517.2(DIAPH3):c.2416A>G (p.Lys806Glu)	DIAPH3 (K543E +4 more)	Single nucleotide variant (missense variant)	DIAPH3-related disorder	GUncertain significance
Select item 3345316	NM_001042517.2(DIAPH3):c.2111C>A (p.Ser704Ter)	DIAPH3 (S441* +4 more)	Single nucleotide variant (nonsense)	DIAPH3-related disorder	GUncertain significance
Select item 3344833	NM_001042517.2(DIAPH3):c.3538G>T (p.Val1180Phe)	DIAPH3 (V1110F +3 more)	Single nucleotide variant (missense variant)	DIAPH3-related disorder	GUncertain significance
Select item 3271961	NM_001042517.2(DIAPH3):c.1619T>G (p.Leu540Arg)	DIAPH3 (L540R +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3271960	NM_001042517.2(DIAPH3):c.877T>A (p.Ser293Thr)	DIAPH3 (S247T +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3271959	NM_001042517.2(DIAPH3):c.3229G>A (p.Asp1077Asn)	DIAPH3 (D1031N +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3271958	NM_001042517.2(DIAPH3):c.1566C>G (p.Asp522Glu)	DIAPH3 (D476E +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3271957	NM_001042517.2(DIAPH3):c.1151G>T (p.Gly384Val)	DIAPH3 (G373V +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3271955	NM_001042517.2(DIAPH3):c.2618C>A (p.Thr873Lys)	DIAPH3 (T610K +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3244201	NC_000013.10:g.(?_60240718)_(60738073_?)dup	DIAPH3	Duplication	not provided	GUncertain significance
Select item 3244200	NC_000013.10:g.(?_60565272)_(60566737_?)del	DIAPH3	Deletion	not provided	GUncertain significance
Select item 3244199	NC_000013.10:g.(?_60240718)_(60738073_?)del	DIAPH3	Deletion	not provided	GUncertain significance
Select item 3082373	NM_001042517.2(DIAPH3):c.405A>C (p.Leu135Phe)	DIAPH3 (L65F +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3082372	NM_001042517.2(DIAPH3):c.3218C>A (p.Ala1073Asp)	DIAPH3 (A1062D +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082371	NM_001042517.2(DIAPH3):c.2495A>C (p.Lys832Thr)	DIAPH3 (K786T +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082370	NM_001042517.2(DIAPH3):c.1415G>A (p.Arg472Lys)	DIAPH3 (R461K +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082369	NM_001042517.2(DIAPH3):c.1223A>C (p.Glu408Ala)	DIAPH3 (E145A +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063671	NM_001042517.2(DIAPH3):c.1885A>T (p.Ile629Phe)	DIAPH3 (I366F +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063298	GRCh37/hg19 13q21.1-21.32(chr13:57279797-65861199)x1	DIAPH3, PCDH17 +7 more	Copy number loss	not specified	GUncertain significance
Select item 3063284	GRCh37/hg19 13q21.1-31.3(chr13:56450978-93582180)x1	ACOD1, ATXN8OS +49 more	Copy number loss	not specified	GPathogenic
Select item 3063283	GRCh37/hg19 13q14.11-21.2(chr13:44076923-60520078)x1	ALG11, ARL11 +77 more	Copy number loss	not specified	GPathogenic
Select item 3063282	GRCh37/hg19 13q21.2(chr13:60416214-60817501)x1	DIAPH3	Copy number loss	not specified	GUncertain significance
Select item 3063279	GRCh37/hg19 13q14.2-32.2(chr13:49547974-98214905)x1	ABCC4, ACOD1 +102 more	Copy number loss	not specified	GPathogenic
Select item 3057461	NM_001042517.2(DIAPH3):c.438G>A (p.Lys146=)	DIAPH3	Single nucleotide variant (synonymous variant +1 more)	DIAPH3-related disorder	GLikely benign
Select item 3044091	NM_001042517.2(DIAPH3):c.927del (p.Ala310fs)	DIAPH3 (A240fs +4 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 3029688	NM_001042517.2(DIAPH3):c.545A>G (p.Glu182Gly)	DIAPH3, DIAPH3-AS1 (E112G +3 more)	Single nucleotide variant (missense variant +1 more)	DIAPH3-related disorder	GUncertain significance
Select item 3024581	GRCh37/hg19 13q13.2-21.2(chr13:34884647-61309742)x1	ITM2B, KBTBD6 +119 more	Copy number loss	not provided	GPathogenic
Select item 3023321	NM_001042517.2(DIAPH3):c.771+12C>T	DIAPH3, DIAPH3-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3020247	NM_001042517.2(DIAPH3):c.2818C>T (p.Pro940Ser)	DIAPH3 (P677S +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3019453	NM_001042517.2(DIAPH3):c.1108T>C (p.Leu370=)	DIAPH3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3014929	NM_001042517.2(DIAPH3):c.966A>G (p.Arg322=)	DIAPH3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3011877	NM_001042517.2(DIAPH3):c.646C>A (p.His216Asn)	DIAPH3, DIAPH3-AS1 (H170N +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3009282	NM_001042517.2(DIAPH3):c.2452C>T (p.Pro818Ser)	DIAPH3 (P555S +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3008771	NM_001042517.2(DIAPH3):c.1185T>G (p.His395Gln)	DIAPH3 (H325Q +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3007158	NM_001042517.2(DIAPH3):c.390+10T>G	DIAPH3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3004768	NM_001042517.2(DIAPH3):c.2029G>C (p.Asp677His)	DIAPH3 (D666H +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3004203	NM_001042517.2(DIAPH3):c.2199A>G (p.Pro733=)	DIAPH3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3004036	NM_001042517.2(DIAPH3):c.7C>A (p.Arg3=)	DIAPH3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2998820	NM_001042517.2(DIAPH3):c.1959+7G>A	DIAPH3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2994785	NM_001042517.2(DIAPH3):c.3248C>T (p.Pro1083Leu)	DIAPH3 (P1013L +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2992486	NM_001042517.2(DIAPH3):c.1651-17_1651-15del	DIAPH3	Deletion (intron variant)	not provided	GLikely benign
Select item 2986917	NM_001042517.2(DIAPH3):c.2277G>A (p.Lys759=)	DIAPH3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2982801	NM_001042517.2(DIAPH3):c.513C>G (p.Ser171Arg)	DIAPH3, DIAPH3-AS1 (S160R +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2980359	NM_001042517.2(DIAPH3):c.908+16A>G	DIAPH3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2965854	NM_001042517.2(DIAPH3):c.2494A>T (p.Lys832Ter)	DIAPH3 (K762* +4 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2965723	NM_001042517.2(DIAPH3):c.3439G>A (p.Gly1147Arg)	DIAPH3 (G1101R +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2965372	NM_001042517.2(DIAPH3):c.2608-6A>G	DIAPH3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2963439	NM_001042517.2(DIAPH3):c.181-15T>G	DIAPH3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2959909	NM_001042517.2(DIAPH3):c.3260-17A>T	DIAPH3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2958719	NM_001042517.2(DIAPH3):c.1362-19C>G	DIAPH3	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2956172	NM_001042517.2(DIAPH3):c.2608-19T>C	DIAPH3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2955832	NM_001042517.2(DIAPH3):c.626+14T>C	DIAPH3, DIAPH3-AS1	Single nucleotide variant (intron variant)	Autosomal dominant auditory neuropathy 1 +1 more	GConflicting classifications of pathogenicity
Select item 2916662	NM_001042517.2(DIAPH3):c.3278_3279delinsTG (p.Ser1093Met)	DIAPH3 (S1047M +4 more)	Indel (missense variant)	not provided	GUncertain significance
Select item 2905692	NM_001042517.2(DIAPH3):c.3387G>A (p.Arg1129=)	DIAPH3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2901164	NM_001042517.2(DIAPH3):c.1191A>T (p.Glu397Asp)	DIAPH3 (E134D +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2901115	NM_001042517.2(DIAPH3):c.1563C>T (p.Thr521=)	DIAPH3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2899994	NM_001042517.2(DIAPH3):c.792G>C (p.Met264Ile)	DIAPH3 (M194I +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2897419	NM_001042517.2(DIAPH3):c.1019C>T (p.Ala340Val)	DIAPH3 (A294V +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2896409	NM_001042517.2(DIAPH3):c.204G>A (p.Thr68=)	DIAPH3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2896049	NM_001042517.2(DIAPH3):c.514C>T (p.Arg172Ter)	DIAPH3, DIAPH3-AS1 (R102* +3 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2895587	NM_001042517.2(DIAPH3):c.2474C>T (p.Thr825Ile)	DIAPH3 (T562I +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2892277	NM_001042517.2(DIAPH3):c.1411C>T (p.His471Tyr)	DIAPH3 (H208Y +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2883472	NM_001042517.2(DIAPH3):c.1734G>A (p.Pro578=)	DIAPH3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2880840	NM_001042517.2(DIAPH3):c.181-10T>A	DIAPH3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2879342	NM_001042517.2(DIAPH3):c.2629G>T (p.Asp877Tyr)	DIAPH3 (D614Y +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2876712	NM_001042517.2(DIAPH3):c.702-12A>G	DIAPH3, DIAPH3-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2876151	NM_001042517.2(DIAPH3):c.772-4A>G	DIAPH3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2875653	NM_001042517.2(DIAPH3):c.1506A>G (p.Leu502=)	DIAPH3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2873271	NM_001042517.2(DIAPH3):c.3027+4T>C	DIAPH3	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2868884	NM_001042517.2(DIAPH3):c.1366C>G (p.Gln456Glu)	DIAPH3 (Q386E +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2863323	NM_001042517.2(DIAPH3):c.180+9C>A	DIAPH3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2844056	NM_001042517.2(DIAPH3):c.3534A>G (p.Glu1178=)	DIAPH3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2836720	NM_001042517.2(DIAPH3):c.1602G>A (p.Glu534=)	DIAPH3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2823249	NM_001042517.2(DIAPH3):c.3164-18C>G	DIAPH3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2807815	NM_001042517.2(DIAPH3):c.1740A>G (p.Pro580=)	DIAPH3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2793141	NM_001042517.2(DIAPH3):c.109C>T (p.Arg37Cys)	DIAPH3 (R37C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2792243	NM_001042517.2(DIAPH3):c.1691C>A (p.Pro564His)	DIAPH3 (P301H +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2789397	NM_001042517.2(DIAPH3):c.3340A>G (p.Thr1114Ala)	DIAPH3 (T1103A +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2787701	NM_001042517.2(DIAPH3):c.2700T>C (p.Phe900=)	DIAPH3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2782295	NM_001042517.2(DIAPH3):c.2151T>C (p.Ser717=)	DIAPH3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2778303	NM_001042517.2(DIAPH3):c.2875A>G (p.Ser959Gly)	DIAPH3 (S913G +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2777341	NM_001042517.2(DIAPH3):c.2054C>T (p.Thr685Ile)	DIAPH3 (T615I +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2776600	NM_001042517.2(DIAPH3):c.569A>G (p.Glu190Gly)	DIAPH3, DIAPH3-AS1 (E190G +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2775567	NM_001042517.2(DIAPH3):c.2872A>T (p.Ile958Phe)	DIAPH3 (I958F +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2756762	NM_001042517.2(DIAPH3):c.3130C>G (p.Gln1044Glu)	DIAPH3 (Q781E +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2749810	NM_001042517.2(DIAPH3):c.1657G>A (p.Ala553Thr)	DIAPH3 (A542T +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2748854	NM_001042517.2(DIAPH3):c.1362-7G>T	DIAPH3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2745964	NM_001042517.2(DIAPH3):c.3058G>A (p.Glu1020Lys)	DIAPH3 (E1020K +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2726266	NM_001042517.2(DIAPH3):c.2049G>A (p.Glu683=)	DIAPH3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2722931	NM_001042517.2(DIAPH3):c.1157A>G (p.Asp386Gly)	DIAPH3 (D375G +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2722273	NM_001042517.2(DIAPH3):c.1840C>T (p.Pro614Ser)	DIAPH3 (P544S +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2716560	NM_001042517.2(DIAPH3):c.2737+7G>A	DIAPH3 (C652Y)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2711355	NM_001042517.2(DIAPH3):c.71C>T (p.Ser24Leu)	DIAPH3 (S24L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2685468	GRCh37/hg19 13q21.2(chr13:60592258-60680722)x1	DIAPH3	Copy number loss	not provided	GUncertain significance
Select item 2685467	GRCh37/hg19 13q21.2(chr13:60450342-60661812)x1	DIAPH3	Copy number loss	not provided	GUncertain significance
Select item 2684702	GRCh37/hg19 13q21.1-21.2(chr13:59516323-61738095)x3	DIAPH3, TDRD3	Copy number gain	not provided	GUncertain significance
Select item 2643832	NM_001042517.2(DIAPH3):c.768G>A (p.Thr256=)	DIAPH3, DIAPH3-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2643831	NM_001042517.2(DIAPH3):c.3516C>T (p.Gly1172=)	DIAPH3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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