DIAPH3[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1282927	NM_001042517.2(DIAPH3):c.*226dup	DIAPH3	Duplication (3 prime UTR variant)	not provided	GBenign
Select item 1225244	NM_001042517.2(DIAPH3):c.225_226dup	DIAPH3	Duplication (3 prime UTR variant)	not provided	GBenign
Select item 1178019	NM_001042517.2(DIAPH3):c.224_226dup	DIAPH3	Duplication (3 prime UTR variant)	not provided	GLikely benign
Select item 1239594	NM_001042517.2(DIAPH3):c.*147T>A	DIAPH3	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1195612	NM_001042517.2(DIAPH3):c.*23A>T	DIAPH3	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 1231569	NM_001042517.2(DIAPH3):c.*16A>T	DIAPH3	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 2072750	NM_001042517.2(DIAPH3):c.3579A>G (p.Leu1193=)	DIAPH3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2383784	NM_001042517.2(DIAPH3):c.3572G>A (p.Arg1191Gln)	DIAPH3 (R1180Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 285604	NM_001042517.2(DIAPH3):c.3571C>T (p.Arg1191Ter)	DIAPH3 (R1191* +3 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2211101	NM_001042517.2(DIAPH3):c.3565A>G (p.Arg1189Gly)	DIAPH3 (R1189G +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 504360	NM_001042517.2(DIAPH3):c.3543dup (p.Glu1182fs)	DIAPH3 (E1136fs +3 more)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 2844056	NM_001042517.2(DIAPH3):c.3534A>G (p.Glu1178=)	DIAPH3	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
Select item 807028	NM_001042517.2(DIAPH3):c.3504G>A (p.Thr1168=)	DIAPH3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1907354	NM_001042517.2(DIAPH3):c.3497del (p.Lys1166fs)	DIAPH3 (K1096fs +3 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2081607	NM_001042517.2(DIAPH3):c.3477T>C (p.Asn1159=)	DIAPH3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2330223	NM_001042517.2(DIAPH3):c.3476A>C (p.Asn1159Thr)	DIAPH3 (N1113T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1313654	NM_001042517.2(DIAPH3):c.3472T>C (p.Cys1158Arg)	DIAPH3 (C1088R +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 517828	NM_001042517.2(DIAPH3):c.3471G>A (p.Ala1157=)	DIAPH3	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 1549569	NM_001042517.2(DIAPH3):c.3470C>T (p.Ala1157Val)	DIAPH3 (A1087V +3 more)	Single nucleotide variant (missense variant)	not provided	GBenign
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 716570	NM_001042517.2(DIAPH3):c.3435T>C (p.Ser1145=)	DIAPH3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2491871	NM_001042517.2(DIAPH3):c.3428A>G (p.His1143Arg)	DIAPH3 (H1073R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372432	NM_001042517.2(DIAPH3):c.3416A>G (p.Asn1139Ser)	DIAPH3 (N1093S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1189868	NM_001042517.2(DIAPH3):c.3397G>A (p.Ala1133Thr)	DIAPH3 (A1063T +3 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 2488025	NM_001042517.2(DIAPH3):c.3389C>G (p.Thr1130Ser)	DIAPH3 (T1084S +3 more)	Single nucleotide variant (missense variant)	not specified	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 2476361	NM_001042517.2(DIAPH3):c.3371A>G (p.Asn1124Ser)	DIAPH3 (N1124S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1719701	NM_001042517.2(DIAPH3):c.3371A>T (p.Asn1124Ile)	DIAPH3 (N1054I +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1915046	NM_001042517.2(DIAPH3):c.3365A>G (p.Asn1122Ser)	DIAPH3 (N1076S +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1208227	NM_001042517.2(DIAPH3):c.3352C>T (p.Arg1118Cys)	DIAPH3 (R1048C +3 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
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 517823	NM_001042517.2(DIAPH3):c.3339G>A (p.Leu1113=)	DIAPH3	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 1387634	NM_001042517.2(DIAPH3):c.3320-3T>C	DIAPH3	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1557780	NM_001042517.2(DIAPH3):c.3320-16T>C	DIAPH3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1230387	NM_001042517.2(DIAPH3):c.3319+314G>A	DIAPH3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1233225	NM_001042517.2(DIAPH3):c.3319+177_3319+179del	DIAPH3	Microsatellite (intron variant)	not provided	GBenign
Select item 1203108	NM_001042517.2(DIAPH3):c.3319+56A>G	DIAPH3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1194990	NM_001042517.2(DIAPH3):c.3319+43T>C	DIAPH3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1544415	NM_001042517.2(DIAPH3):c.3319+11G>A	DIAPH3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1195362	NM_001042517.2(DIAPH3):c.3283A>G (p.Met1095Val)	DIAPH3 (M1025V +4 more)	Single nucleotide variant (missense variant)	DIAPH3-related disorder +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 2421307	NM_001042517.2(DIAPH3):c.3266G>C (p.Arg1089Pro)	DIAPH3 (R1019P +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1393230	NM_001042517.2(DIAPH3):c.3266G>A (p.Arg1089Gln)	DIAPH3 (R1019Q +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1686623	NM_001042517.2(DIAPH3):c.3265C>T (p.Arg1089Trp)	DIAPH3 (R1019W +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1306148	NM_001042517.2(DIAPH3):c.3260-1G>A	DIAPH3	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 1598983	NM_001042517.2(DIAPH3):c.3260-6dup	DIAPH3	Duplication (intron variant)	not provided	GBenign
Select item 770993	NM_001042517.2(DIAPH3):c.3260-6del	DIAPH3	Deletion (intron variant)	not provided	GBenign
Select item 1200459	NM_001042517.2(DIAPH3):c.3260-12T>A	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 683463	NM_001042517.2(DIAPH3):c.3260-76G>C	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 391599	NM_001042517.2(DIAPH3):c.3227G>A (p.Arg1076His)	DIAPH3 (R1076H +4 more)	Single nucleotide variant (missense variant)	DIAPH3-related disorder +1 more	GLikely benign
Select item 735256	NM_001042517.2(DIAPH3):c.3226C>T (p.Arg1076Cys)	DIAPH3 (R1006C +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
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 2140183	NM_001042517.2(DIAPH3):c.3208del (p.Gln1070fs)	DIAPH3 (Q1059fs +4 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2407272	NM_001042517.2(DIAPH3):c.3187G>A (p.Asp1063Asn)	DIAPH3 (D993N +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1326768	NM_001042517.2(DIAPH3):c.3167G>C (p.Gly1056Ala)	DIAPH3 (G1010A +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1909842	NM_001042517.2(DIAPH3):c.3164-12C>T	DIAPH3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1926066	NM_001042517.2(DIAPH3):c.3164-16G>T	DIAPH3	Single nucleotide variant (intron 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 1225050	NM_001042517.2(DIAPH3):c.3164-217G>A	DIAPH3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2191099	NM_001042517.2(DIAPH3):c.3150A>G (p.Leu1050=)	DIAPH3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2440786	NM_001042517.2(DIAPH3):c.3142C>T (p.Arg1048Cys)	DIAPH3 (R1002C +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1326089	NM_001042517.2(DIAPH3):c.3142C>G (p.Arg1048Gly)	DIAPH3 (R1002G +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 513296	NM_001042517.2(DIAPH3):c.3131A>G (p.Gln1044Arg)	DIAPH3 (Q1044R +4 more)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
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 546124	NM_001042517.2(DIAPH3):c.3125G>A (p.Arg1042His)	DIAPH3 (R1042H +4 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 680047	NM_001042517.2(DIAPH3):c.3124C>T (p.Arg1042Cys)	DIAPH3 (R779C +4 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 1936868	NM_001042517.2(DIAPH3):c.3121G>A (p.Glu1041Lys)	DIAPH3 (E1041K +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2463777	NM_001042517.2(DIAPH3):c.3110G>A (p.Arg1037Gln)	DIAPH3 (R1037Q +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 444318	NM_001042517.2(DIAPH3):c.3082G>A (p.Val1028Ile)	DIAPH3 (V1028I +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1331235	NM_001042517.2(DIAPH3):c.3080G>A (p.Arg1027His)	DIAPH3 (R1016H +4 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
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 1415955	NM_001042517.2(DIAPH3):c.3055dup (p.Arg1019fs)	DIAPH3 (R756fs +4 more)	Duplication (frameshift variant)	not specified +1 more	GUncertain significance
Select item 2335519	NM_001042517.2(DIAPH3):c.3049A>G (p.Lys1017Glu)	DIAPH3 (K754E +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396732	NM_001042517.2(DIAPH3):c.3028C>A (p.Gln1010Lys)	DIAPH3 (Q940K +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 508094	NM_001042517.2(DIAPH3):c.3028-4_3028-3insGTAA	DIAPH3	Insertion (intron variant)	not provided	GBenign
Select item 1601653	NM_001042517.2(DIAPH3):c.3028-10del	DIAPH3	Deletion (intron variant)	not provided	GBenign
Select item 1216572	NM_001042517.2(DIAPH3):c.3028-10A>T	DIAPH3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1639749	NM_001042517.2(DIAPH3):c.3028-15T>C	DIAPH3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1269281	NM_001042517.2(DIAPH3):c.3028-193G>A	DIAPH3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1257987	NM_001042517.2(DIAPH3):c.3027+187C>T	DIAPH3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1300278	NM_001042517.2(DIAPH3):c.3027+71G>A	DIAPH3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1627534	NM_001042517.2(DIAPH3):c.3027+14dup	DIAPH3	Duplication (intron variant)	not provided	GBenign
Select item 1638045	NM_001042517.2(DIAPH3):c.3027+11A>G	DIAPH3	Single nucleotide variant (intron 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 2190390	NM_001042517.2(DIAPH3):c.3027+1G>T	DIAPH3	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 1453394	NM_001042517.2(DIAPH3):c.2976G>A (p.Val992=)	DIAPH3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1359478	NM_001042517.2(DIAPH3):c.2945T>C (p.Ile982Thr)	DIAPH3 (I936T +4 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 2083768	NM_001042517.2(DIAPH3):c.2923G>T (p.Glu975Ter)	DIAPH3 (E905* +4 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1327703	NM_001042517.2(DIAPH3):c.2920A>G (p.Met974Val)	DIAPH3 (M711V +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1515138	NM_001042517.2(DIAPH3):c.2914G>A (p.Glu972Lys)	DIAPH3 (E902K +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1925845	NM_001042517.2(DIAPH3):c.2891A>G (p.Tyr964Cys)	DIAPH3 (Y894C +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1306268	NM_001042517.2(DIAPH3):c.2890T>C (p.Tyr964His)	DIAPH3 (Y701H +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 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 1065021	NM_001042517.2(DIAPH3):c.2863-3T>C	DIAPH3	Single nucleotide variant (intron variant)	Hearing impairment	GUncertain significance
Select item 1219018	NM_001042517.2(DIAPH3):c.2863-283A>C	DIAPH3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1216205	NM_001042517.2(DIAPH3):c.2862+251G>A	DIAPH3	Single nucleotide variant (intron variant)	not provided	GLikely benign

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