ClinVar for MedGen (Select 343767) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 24200081.	NM_005219.5(DIAPH1):c.144+18A>G GRCh37: Chr5:140967773 GRCh38: Chr5:141588206	DIAPH1		Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome, Autosomal dominant nonsyndromic hearing loss 1	Likely benign (May 7, 2022)	criteria provided, single submitter
Select item 24189872.	NM_005219.5(DIAPH1):c.3478G>C (p.Glu1160Gln) GRCh37: Chr5:140905701 GRCh38: Chr5:141526134	DIAPH1	E1151Q, E1160Q	Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome, Autosomal dominant nonsyndromic hearing loss 1	Uncertain significance (Mar 13, 2022)	criteria provided, single submitter
Select item 24170103.	NM_005219.5(DIAPH1):c.2605A>G (p.Met869Val) GRCh37: Chr5:140909241 GRCh38: Chr5:141529674	DIAPH1	M860V, M869V	Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome, Autosomal dominant nonsyndromic hearing loss 1	Uncertain significance (Oct 4, 2022)	criteria provided, single submitter
Select item 24159574.	NM_005219.5(DIAPH1):c.1852C>A (p.Pro618Thr) GRCh37: Chr5:140953565 GRCh38: Chr5:141573998	DIAPH1	P609T, P618T	Autosomal dominant nonsyndromic hearing loss 1, Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome	Uncertain significance (May 16, 2022)	criteria provided, single submitter
Select item 24152245.	NM_005219.5(DIAPH1):c.2779-14G>A GRCh37: Chr5:140908522 GRCh38: Chr5:141528955	DIAPH1		Autosomal dominant nonsyndromic hearing loss 1, Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome	Likely benign (Aug 9, 2022)	criteria provided, single submitter
Select item 24145986.	NM_005219.5(DIAPH1):c.144+5G>C GRCh37: Chr5:140967786 GRCh38: Chr5:141588219	DIAPH1		Autosomal dominant nonsyndromic hearing loss 1, Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome	Uncertain significance (Jul 26, 2022)	criteria provided, single submitter
Select item 24139317.	NM_005219.5(DIAPH1):c.726A>T (p.Leu242=) GRCh37: Chr5:140960409 GRCh38: Chr5:141580842	DIAPH1		Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome, Autosomal dominant nonsyndromic hearing loss 1	Likely benign (May 24, 2022)	criteria provided, single submitter
Select item 24132238.	NM_005219.5(DIAPH1):c.3168A>G (p.Gln1056=) GRCh37: Chr5:140907245 GRCh38: Chr5:141527678	DIAPH1		Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome, Autosomal dominant nonsyndromic hearing loss 1	Likely benign (Aug 28, 2022)	criteria provided, single submitter
Select item 22023269.	NM_005219.5(DIAPH1):c.36C>T (p.Arg12=) GRCh37: Chr5:140998446 GRCh38: Chr5:141618879	DIAPH1		Autosomal dominant nonsyndromic hearing loss 1, Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome	Likely benign (Nov 25, 2020)	criteria provided, single submitter
Select item 220147710.	NM_005219.5(DIAPH1):c.1871G>A (p.Gly624Asp) GRCh37: Chr5:140953546 GRCh38: Chr5:141573979	DIAPH1	G615D, G624D	Autosomal dominant nonsyndromic hearing loss 1, Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome	Uncertain significance (Oct 4, 2022)	criteria provided, single submitter
Select item 220133411.	NM_005219.5(DIAPH1):c.1283C>A (p.Pro428His) GRCh37: Chr5:140956436 GRCh38: Chr5:141576869	DIAPH1	P419H, P428H	Autosomal dominant nonsyndromic hearing loss 1, Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome	Uncertain significance (Aug 16, 2022)	criteria provided, single submitter
Select item 219982612.	NM_005219.5(DIAPH1):c.2030C>G (p.Pro677Arg) GRCh37: Chr5:140953387 GRCh38: Chr5:141573820	DIAPH1	P677R, P668R	Autosomal dominant nonsyndromic hearing loss 1, Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome	Uncertain significance (Sep 7, 2022)	criteria provided, single submitter
Select item 219933313.	NM_005219.5(DIAPH1):c.1727T>C (p.Val576Ala) GRCh37: Chr5:140953690 GRCh38: Chr5:141574123	DIAPH1	V567A, V576A	Autosomal dominant nonsyndromic hearing loss 1, Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome	Uncertain significance (Aug 15, 2022)	criteria provided, single submitter
Select item 219912414.	NM_005219.5(DIAPH1):c.2092G>A (p.Ala698Thr) GRCh37: Chr5:140953325 GRCh38: Chr5:141573758	DIAPH1	A698T, A689T	Autosomal dominant nonsyndromic hearing loss 1, Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome	Uncertain significance (Aug 22, 2022)	criteria provided, single submitter
Select item 219833615.	NM_005219.5(DIAPH1):c.2582-11T>C GRCh37: Chr5:140909275 GRCh38: Chr5:141529708	DIAPH1		Autosomal dominant nonsyndromic hearing loss 1, Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome	Likely benign (Aug 17, 2022)	criteria provided, single submitter
Select item 219738616.	NM_005219.5(DIAPH1):c.3676G>A (p.Gly1226Arg) GRCh37: Chr5:140896561 GRCh38: Chr5:141516994	DIAPH1	G1217R, G1226R	Autosomal dominant nonsyndromic hearing loss 1, Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome	Uncertain significance (Dec 24, 2021)	criteria provided, single submitter
Select item 219712617.	NM_005219.5(DIAPH1):c.3818A>C (p.Ter1273Ser) GRCh37: Chr5:140896419 GRCh38: Chr5:141516852	DIAPH1		Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome, Autosomal dominant nonsyndromic hearing loss 1	Uncertain significance (Mar 22, 2022)	criteria provided, single submitter
Select item 219566918.	NM_005219.5(DIAPH1):c.2928C>G (p.Leu976=) GRCh37: Chr5:140908359 GRCh38: Chr5:141528792	DIAPH1		Autosomal dominant nonsyndromic hearing loss 1, Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome	Likely benign (Oct 24, 2022)	criteria provided, single submitter
Select item 219500019.	NM_005219.5(DIAPH1):c.3211C>T (p.Arg1071Cys) GRCh37: Chr5:140907202 GRCh38: Chr5:141527635	DIAPH1	R1071C, R1062C	Autosomal dominant nonsyndromic hearing loss 1, Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome	Uncertain significance (Jun 13, 2022)	criteria provided, single submitter
Select item 219095120.	NM_005219.5(DIAPH1):c.2333A>C (p.Gln778Pro) GRCh37: Chr5:140953084 GRCh38: Chr5:141573517	DIAPH1	Q778P, Q769P	Autosomal dominant nonsyndromic hearing loss 1, Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome	Uncertain significance (Jan 19, 2022)	criteria provided, single submitter
Select item 219095021.	NM_005219.5(DIAPH1):c.3149-15_3149-14insG GRCh37: Chr5:140907278-140907279 GRCh38: Chr5:141527711-141527712	DIAPH1		Autosomal dominant nonsyndromic hearing loss 1, Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome	Likely benign (Jan 20, 2022)	criteria provided, single submitter
Select item 219027422.	NM_005219.5(DIAPH1):c.1044+9T>G GRCh37: Chr5:140958073 GRCh38: Chr5:141578506	DIAPH1		Autosomal dominant nonsyndromic hearing loss 1, Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome	Likely benign (Jul 15, 2022)	criteria provided, single submitter
Select item 218662223.	NM_005219.5(DIAPH1):c.3138A>G (p.Lys1046=) GRCh37: Chr5:140908030 GRCh38: Chr5:141528463	DIAPH1		Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome, Autosomal dominant nonsyndromic hearing loss 1	Likely benign (Apr 26, 2022)	criteria provided, single submitter
Select item 218506024.	NM_005219.5(DIAPH1):c.2483-10del GRCh37: Chr5:140914010 GRCh38: Chr5:141534443	DIAPH1		Autosomal dominant nonsyndromic hearing loss 1, Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome	Benign (Sep 13, 2022)	criteria provided, single submitter
Select item 218456125.	NM_005219.5(DIAPH1):c.2459C>T (p.Ser820Phe) GRCh37: Chr5:140951507 GRCh38: Chr5:141571940	DIAPH1	S811F, S820F	Autosomal dominant nonsyndromic hearing loss 1, Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome	Uncertain significance (Aug 23, 2022)	criteria provided, single submitter
Select item 218337226.	NM_005219.5(DIAPH1):c.2221C>T (p.Pro741Ser) GRCh37: Chr5:140953196 GRCh38: Chr5:141573629	DIAPH1	P732S, P741S	Autosomal dominant nonsyndromic hearing loss 1, Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome	Uncertain significance (Dec 26, 2021)	criteria provided, single submitter
Select item 218191227.	NM_005219.5(DIAPH1):c.1439A>C (p.Lys480Thr) GRCh37: Chr5:140955819 GRCh38: Chr5:141576252	DIAPH1	K480T, K471T	Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome, Autosomal dominant nonsyndromic hearing loss 1	Uncertain significance (May 11, 2022)	criteria provided, single submitter
Select item 218076728.	NM_005219.5(DIAPH1):c.2106C>A (p.Pro702=) GRCh37: Chr5:140953311 GRCh38: Chr5:141573744	DIAPH1		Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome, Autosomal dominant nonsyndromic hearing loss 1	Likely benign (Sep 2, 2022)	criteria provided, single submitter
Select item 217679529.	NM_005219.5(DIAPH1):c.1838C>T (p.Pro613Leu) GRCh37: Chr5:140953579 GRCh38: Chr5:141574012	DIAPH1	P613L, P604L	Autosomal dominant nonsyndromic hearing loss 1, Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome	Uncertain significance (Aug 8, 2022)	criteria provided, single submitter
Select item 217421930.	NM_005219.5(DIAPH1):c.2560T>G (p.Ser854Ala) GRCh37: Chr5:140913923 GRCh38: Chr5:141534356	DIAPH1	S845A, S854A	Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome, Autosomal dominant nonsyndromic hearing loss 1	Uncertain significance (Apr 24, 2022)	criteria provided, single submitter
Select item 217391631.	NM_005219.5(DIAPH1):c.3078G>C (p.Leu1026Phe) GRCh37: Chr5:140908090 GRCh38: Chr5:141528523	DIAPH1	L1017F, L1026F	Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome, Autosomal dominant nonsyndromic hearing loss 1	Uncertain significance (May 31, 2022)	criteria provided, single submitter
Select item 217279732.	NM_005219.5(DIAPH1):c.2132C>T (p.Ala711Val) GRCh37: Chr5:140953285 GRCh38: Chr5:141573718	DIAPH1	A702V, A711V	Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome, Autosomal dominant nonsyndromic hearing loss 1	Uncertain significance (Jul 5, 2022)	criteria provided, single submitter
Select item 217267833.	NM_005219.5(DIAPH1):c.1386G>A (p.Glu462=) GRCh37: Chr5:140956333 GRCh38: Chr5:141576766	DIAPH1		Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome, Autosomal dominant nonsyndromic hearing loss 1	Likely benign (Jun 2, 2022)	criteria provided, single submitter
Select item 217110034.	NM_005219.5(DIAPH1):c.621-10C>T GRCh37: Chr5:140961952 GRCh38: Chr5:141582385	DIAPH1		Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome, Autosomal dominant nonsyndromic hearing loss 1	Likely benign (Jul 17, 2022)	criteria provided, single submitter
Select item 216970135.	NM_005219.5(DIAPH1):c.3274-23_3274-18dup GRCh37: Chr5:140906045-140906046 GRCh38: Chr5:141526478-141526479	DIAPH1		Autosomal dominant nonsyndromic hearing loss 1, Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome	Likely benign (May 31, 2022)	criteria provided, single submitter
Select item 216841836.	NM_005219.5(DIAPH1):c.2733G>A (p.Lys911=) GRCh37: Chr5:140908784 GRCh38: Chr5:141529217	DIAPH1		Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome, Autosomal dominant nonsyndromic hearing loss 1	Likely benign (Aug 16, 2022)	criteria provided, single submitter
Select item 216826837.	NM_005219.5(DIAPH1):c.846A>G (p.Ala282=) GRCh37: Chr5:140958742 GRCh38: Chr5:141579175	DIAPH1		Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome, Autosomal dominant nonsyndromic hearing loss 1	Likely benign (Sep 7, 2022)	criteria provided, single submitter
Select item 216731138.	NM_005219.5(DIAPH1):c.2554T>C (p.Leu852=) GRCh37: Chr5:140913929 GRCh38: Chr5:141534362	DIAPH1		Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome, Autosomal dominant nonsyndromic hearing loss 1	Likely benign (May 19, 2022)	criteria provided, single submitter
Select item 216402439.	NM_005219.5(DIAPH1):c.3149-13_3149-3del GRCh37: Chr5:140907267-140907277 GRCh38: Chr5:141527700-141527710	DIAPH1		Autosomal dominant nonsyndromic hearing loss 1, Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome	Uncertain significance (Sep 16, 2022)	criteria provided, single submitter
Select item 215837940.	NM_005219.5(DIAPH1):c.2965G>A (p.Ala989Thr) GRCh37: Chr5:140908322 GRCh38: Chr5:141528755	DIAPH1	A980T, A989T	Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome, Autosomal dominant nonsyndromic hearing loss 1	Uncertain significance (Mar 13, 2022)	criteria provided, single submitter
Select item 215764141.	NM_005219.5(DIAPH1):c.1397-9T>C GRCh37: Chr5:140955870 GRCh38: Chr5:141576303	DIAPH1		Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome, Autosomal dominant nonsyndromic hearing loss 1	Likely benign (Feb 11, 2022)	criteria provided, single submitter
Select item 215764042.	NM_005219.5(DIAPH1):c.3466C>T (p.Arg1156Trp) GRCh37: Chr5:140905713 GRCh38: Chr5:141526146	DIAPH1	R1147W, R1156W	Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome, Autosomal dominant nonsyndromic hearing loss 1	Uncertain significance (Feb 11, 2022)	criteria provided, single submitter
Select item 215628043.	NM_005219.5(DIAPH1):c.1762T>A (p.Leu588Ile) GRCh37: Chr5:140953655 GRCh38: Chr5:141574088	DIAPH1	L579I, L588I	Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome, Autosomal dominant nonsyndromic hearing loss 1	Uncertain significance (Jan 12, 2022)	criteria provided, single submitter
Select item 215560544.	NM_005219.5(DIAPH1):c.3575-13T>C GRCh37: Chr5:140903809 GRCh38: Chr5:141524242	DIAPH1		Autosomal dominant nonsyndromic hearing loss 1, Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome	Likely benign (Sep 14, 2022)	criteria provided, single submitter
Select item 215460445.	NM_005219.5(DIAPH1):c.3559A>G (p.Ile1187Val) GRCh37: Chr5:140905620 GRCh38: Chr5:141526053	DIAPH1	I1178V, I1187V	Autosomal dominant nonsyndromic hearing loss 1, Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome	Uncertain significance (Aug 9, 2022)	criteria provided, single submitter
Select item 215423546.	NM_005219.5(DIAPH1):c.2454C>T (p.Thr818=) GRCh37: Chr5:140951512 GRCh38: Chr5:141571945	DIAPH1		Autosomal dominant nonsyndromic hearing loss 1, Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome	Likely benign (Jul 1, 2022)	criteria provided, single submitter
Select item 215357847.	NM_005219.5(DIAPH1):c.1826C>T (p.Pro609Leu) GRCh37: Chr5:140953591 GRCh38: Chr5:141574024	DIAPH1	P609L, P600L	not provided, Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome, Autosomal dominant nonsyndromic hearing loss 1	Uncertain significance (Jan 5, 2023)	criteria provided, multiple submitters, no conflicts
Select item 214968348.	NM_005219.5(DIAPH1):c.117+20C>G GRCh37: Chr5:140998345 GRCh38: Chr5:141618778	DIAPH1		Autosomal dominant nonsyndromic hearing loss 1, Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome	Likely benign (Jun 13, 2022)	criteria provided, single submitter
Select item 214906449.	NM_005219.5(DIAPH1):c.2017A>G (p.Thr673Ala) GRCh37: Chr5:140953400 GRCh38: Chr5:141573833	DIAPH1	T664A, T673A	Autosomal dominant nonsyndromic hearing loss 1, Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome	Uncertain significance (Nov 1, 2022)	criteria provided, single submitter
Select item 214628250.	NM_005219.5(DIAPH1):c.2779-11T>C GRCh37: Chr5:140908519 GRCh38: Chr5:141528952	DIAPH1		Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome, Autosomal dominant nonsyndromic hearing loss 1	Likely benign (Dec 29, 2021)	criteria provided, single submitter
Select item 214623651.	NM_005219.5(DIAPH1):c.1861T>G (p.Leu621Val) GRCh37: Chr5:140953556 GRCh38: Chr5:141573989	DIAPH1	L621V, L612V	Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome, Autosomal dominant nonsyndromic hearing loss 1	Uncertain significance (Oct 18, 2022)	criteria provided, single submitter
Select item 214535352.	NM_005219.5(DIAPH1):c.403-11C>G GRCh37: Chr5:140963193 GRCh38: Chr5:141583626	DIAPH1		Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome, Autosomal dominant nonsyndromic hearing loss 1	Likely benign (Apr 28, 2022)	criteria provided, single submitter
Select item 214291853.	NM_005219.5(DIAPH1):c.2162C>G (p.Pro721Arg) GRCh37: Chr5:140953255 GRCh38: Chr5:141573688	DIAPH1	P721R, P712R	Autosomal dominant nonsyndromic hearing loss 1, Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome	Uncertain significance (Sep 9, 2022)	criteria provided, single submitter
Select item 213511254.	NM_005219.5(DIAPH1):c.3693T>C (p.Ser1231=) GRCh37: Chr5:140896544 GRCh38: Chr5:141516977	DIAPH1	L1249P	Autosomal dominant nonsyndromic hearing loss 1, Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome	Likely benign (May 7, 2022)	criteria provided, single submitter
Select item 213183255.	NM_005219.5(DIAPH1):c.2507A>G (p.Glu836Gly) GRCh37: Chr5:140913976 GRCh38: Chr5:141534409	DIAPH1	E836G, E827G	Autosomal dominant nonsyndromic hearing loss 1, Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome	Uncertain significance (Jun 8, 2022)	criteria provided, single submitter
Select item 213179756.	NM_005219.5(DIAPH1):c.1476A>T (p.Leu492Phe) GRCh37: Chr5:140954699 GRCh38: Chr5:141575132	DIAPH1	L483F, L492F	Autosomal dominant nonsyndromic hearing loss 1, Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome	Uncertain significance (Jul 16, 2022)	criteria provided, single submitter
Select item 213129257.	NM_005219.5(DIAPH1):c.301-11C>T GRCh37: Chr5:140963803 GRCh38: Chr5:141584236	DIAPH1		Autosomal dominant nonsyndromic hearing loss 1, Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome	Likely benign (Apr 28, 2022)	criteria provided, single submitter
Select item 212857558.	NM_005219.5(DIAPH1):c.3156T>C (p.Ala1052=) GRCh37: Chr5:140907257 GRCh38: Chr5:141527690	DIAPH1		Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome, Autosomal dominant nonsyndromic hearing loss 1	Likely benign (Apr 20, 2022)	criteria provided, single submitter
Select item 212813459.	NM_005219.5(DIAPH1):c.3203A>T (p.Asp1068Val) GRCh37: Chr5:140907210 GRCh38: Chr5:141527643	DIAPH1	D1059V, D1068V	Autosomal dominant nonsyndromic hearing loss 1, Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome	Uncertain significance (Jun 24, 2022)	criteria provided, single submitter
Select item 212636860.	NM_005219.5(DIAPH1):c.646G>A (p.Glu216Lys) GRCh37: Chr5:140961917 GRCh38: Chr5:141582350	DIAPH1	E207K, E216K	Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome, Autosomal dominant nonsyndromic hearing loss 1	Uncertain significance (Apr 18, 2022)	criteria provided, single submitter
Select item 212504561.	NM_005219.5(DIAPH1):c.2944C>G (p.Leu982Val) GRCh37: Chr5:140908343 GRCh38: Chr5:141528776	DIAPH1	L973V, L982V	Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome, Autosomal dominant nonsyndromic hearing loss 1	Uncertain significance (Apr 12, 2022)	criteria provided, single submitter
Select item 212254562.	NM_005219.5(DIAPH1):c.233A>G (p.Asp78Gly) GRCh37: Chr5:140966676 GRCh38: Chr5:141587109	DIAPH1	D69G, D78G	Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome, Autosomal dominant nonsyndromic hearing loss 1	Uncertain significance (Aug 29, 2022)	criteria provided, single submitter
Select item 212170463.	NM_005219.5(DIAPH1):c.140A>T (p.Asp47Val) GRCh37: Chr5:140967795 GRCh38: Chr5:141588228	DIAPH1	D47V	Autosomal dominant nonsyndromic hearing loss 1, Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome	Uncertain significance (Apr 4, 2022)	criteria provided, single submitter
Select item 212150564.	NM_005219.5(DIAPH1):c.1173T>C (p.Asn391=) GRCh37: Chr5:140957149 GRCh38: Chr5:141577582	DIAPH1		Autosomal dominant nonsyndromic hearing loss 1, Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome	Likely benign (Apr 4, 2022)	criteria provided, single submitter
Select item 212070965.	NM_005219.5(DIAPH1):c.2605A>C (p.Met869Leu) GRCh37: Chr5:140909241 GRCh38: Chr5:141529674	DIAPH1	M860L, M869L	Autosomal dominant nonsyndromic hearing loss 1, Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome	Uncertain significance (Jul 23, 2022)	criteria provided, single submitter
Select item 211805166.	NM_005219.5(DIAPH1):c.3574+15C>A GRCh37: Chr5:140905590 GRCh38: Chr5:141526023	DIAPH1		Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome, Autosomal dominant nonsyndromic hearing loss 1	Likely benign (Mar 27, 2022)	criteria provided, single submitter
Select item 211795467.	NM_005219.5(DIAPH1):c.1292A>G (p.Tyr431Cys) GRCh37: Chr5:140956427 GRCh38: Chr5:141576860	DIAPH1	Y422C, Y431C	Autosomal dominant nonsyndromic hearing loss 1, Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome	Uncertain significance (Mar 27, 2022)	criteria provided, single submitter
Select item 211760668.	NM_005219.5(DIAPH1):c.717A>G (p.Glu239=) GRCh37: Chr5:140960418 GRCh38: Chr5:141580851	DIAPH1		Autosomal dominant nonsyndromic hearing loss 1, Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome	Likely benign (Mar 26, 2022)	criteria provided, single submitter
Select item 211759169.	NM_005219.5(DIAPH1):c.927A>T (p.Ala309=) GRCh37: Chr5:140958661 GRCh38: Chr5:141579094	DIAPH1		Autosomal dominant nonsyndromic hearing loss 1, Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome	Likely benign (Mar 26, 2022)	criteria provided, single submitter
Select item 211697570.	NM_005219.5(DIAPH1):c.933+3A>G GRCh37: Chr5:140958652 GRCh38: Chr5:141579085	DIAPH1		Autosomal dominant nonsyndromic hearing loss 1, Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome	Uncertain significance (Aug 16, 2022)	criteria provided, single submitter
Select item 211623371.	NM_005219.5(DIAPH1):c.1967C>T (p.Pro656Leu) GRCh37: Chr5:140953450 GRCh38: Chr5:141573883	DIAPH1	P656L, P647L	Autosomal dominant nonsyndromic hearing loss 1, Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome	Uncertain significance (May 11, 2022)	criteria provided, single submitter
Select item 211486372.	NM_005219.5(DIAPH1):c.145-20T>A GRCh37: Chr5:140966784 GRCh38: Chr5:141587217	DIAPH1		Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome, Autosomal dominant nonsyndromic hearing loss 1	Likely benign (May 12, 2022)	criteria provided, single submitter
Select item 211403073.	NM_005219.5(DIAPH1):c.1230C>A (p.Phe410Leu) GRCh37: Chr5:140957092 GRCh38: Chr5:141577525	DIAPH1	F401L, F410L	Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome, Autosomal dominant nonsyndromic hearing loss 1	Uncertain significance (Jul 18, 2022)	criteria provided, single submitter
Select item 211401774.	NM_005219.5(DIAPH1):c.3273+5C>T GRCh37: Chr5:140907135 GRCh38: Chr5:141527568	DIAPH1		Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome, Autosomal dominant nonsyndromic hearing loss 1	Uncertain significance (Apr 4, 2022)	criteria provided, single submitter
Select item 211175575.	NM_005219.5(DIAPH1):c.1676A>G (p.Lys559Arg) GRCh37: Chr5:140953741 GRCh38: Chr5:141574174	DIAPH1	K550R, K559R	Autosomal dominant nonsyndromic hearing loss 1, Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome	Uncertain significance (Jun 22, 2022)	criteria provided, single submitter
Select item 211029076.	NM_005219.5(DIAPH1):c.1397-22_1397-19del GRCh37: Chr5:140955880-140955883 GRCh38: Chr5:141576313-141576316	DIAPH1		Autosomal dominant nonsyndromic hearing loss 1, Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome	Likely benign (Mar 18, 2022)	criteria provided, single submitter
Select item 210921977.	NM_005219.5(DIAPH1):c.2582-18T>C GRCh37: Chr5:140909282 GRCh38: Chr5:141529715	DIAPH1		Autosomal dominant nonsyndromic hearing loss 1, Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome	Likely benign (Mar 11, 2022)	criteria provided, single submitter
Select item 210833978.	NM_005219.5(DIAPH1):c.1265A>T (p.Asn422Ile) GRCh37: Chr5:140957057 GRCh38: Chr5:141577490	DIAPH1	N422I, N413I	Autosomal dominant nonsyndromic hearing loss 1, Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome	Uncertain significance (Mar 10, 2022)	criteria provided, single submitter
Select item 210792179.	NM_005219.5(DIAPH1):c.2677-11C>G GRCh37: Chr5:140908851 GRCh38: Chr5:141529284	DIAPH1		Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome, Autosomal dominant nonsyndromic hearing loss 1	Likely benign (Mar 9, 2022)	criteria provided, single submitter
Select item 210712080.	NM_005219.5(DIAPH1):c.2978A>G (p.Asn993Ser) GRCh37: Chr5:140908309 GRCh38: Chr5:141528742	DIAPH1	N984S, N993S	Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome, Autosomal dominant nonsyndromic hearing loss 1	Uncertain significance (Sep 9, 2022)	criteria provided, single submitter
Select item 210452681.	NM_005219.5(DIAPH1):c.743T>C (p.Met248Thr) GRCh37: Chr5:140960392 GRCh38: Chr5:141580825	DIAPH1	M239T, M248T	Autosomal dominant nonsyndromic hearing loss 1, Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome	Uncertain significance (Feb 28, 2022)	criteria provided, single submitter
Select item 210145982.	NM_005219.5(DIAPH1):c.2439C>T (p.Ala813=) GRCh37: Chr5:140951527 GRCh38: Chr5:141571960	DIAPH1		Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome, Autosomal dominant nonsyndromic hearing loss 1	Likely benign (Feb 22, 2022)	criteria provided, single submitter
Select item 210145083.	NM_005219.5(DIAPH1):c.2306C>G (p.Pro769Arg) GRCh37: Chr5:140953111 GRCh38: Chr5:141573544	DIAPH1	P769R, P760R	Autosomal dominant nonsyndromic hearing loss 1, Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome	Uncertain significance (Feb 22, 2022)	criteria provided, single submitter
Select item 210140084.	NM_005219.5(DIAPH1):c.2448C>G (p.Thr816=) GRCh37: Chr5:140951518 GRCh38: Chr5:141571951	DIAPH1		Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome, Autosomal dominant nonsyndromic hearing loss 1	Likely benign (Feb 22, 2022)	criteria provided, single submitter
Select item 210122185.	NM_005219.5(DIAPH1):c.1368C>T (p.His456=) GRCh37: Chr5:140956351 GRCh38: Chr5:141576784	DIAPH1		Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome, Autosomal dominant nonsyndromic hearing loss 1	Likely benign (Aug 29, 2022)	criteria provided, single submitter
Select item 210106086.	NM_005219.5(DIAPH1):c.193A>G (p.Asn65Asp) GRCh37: Chr5:140966716 GRCh38: Chr5:141587149	DIAPH1	N56D, N65D	Autosomal dominant nonsyndromic hearing loss 1, Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome	Uncertain significance (Oct 5, 2022)	criteria provided, single submitter
Select item 209967687.	NM_005219.5(DIAPH1):c.1021T>C (p.Leu341=) GRCh37: Chr5:140958105 GRCh38: Chr5:141578538	DIAPH1		Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome, Autosomal dominant nonsyndromic hearing loss 1	Likely benign (Feb 19, 2022)	criteria provided, single submitter
Select item 209899188.	NM_005219.5(DIAPH1):c.2075C>G (p.Pro692Arg) GRCh37: Chr5:140953342 GRCh38: Chr5:141573775	DIAPH1	P683R, P692R	Autosomal dominant nonsyndromic hearing loss 1, Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome	Uncertain significance (Feb 18, 2022)	criteria provided, single submitter
Select item 209763289.	NM_005219.5(DIAPH1):c.3211_3212insAT (p.Arg1071fs) GRCh37: Chr5:140907201-140907202 GRCh38: Chr5:141527634-141527635	DIAPH1	R1071fs, R1062fs	Autosomal dominant nonsyndromic hearing loss 1, Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome	Pathogenic (Feb 28, 2022)	criteria provided, single submitter
Select item 209652090.	NM_005219.5(DIAPH1):c.3354G>A (p.Leu1118=) GRCh37: Chr5:140905948 GRCh38: Chr5:141526381	DIAPH1		Autosomal dominant nonsyndromic hearing loss 1, Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome	Likely benign (Feb 11, 2022)	criteria provided, single submitter
Select item 209560591.	NM_005219.5(DIAPH1):c.915A>G (p.Gly305=) GRCh37: Chr5:140958673 GRCh38: Chr5:141579106	DIAPH1		Autosomal dominant nonsyndromic hearing loss 1, Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome	Likely benign (Jul 9, 2022)	criteria provided, single submitter
Select item 209548192.	NM_005219.5(DIAPH1):c.43C>T (p.Arg15Trp) GRCh37: Chr5:140998439 GRCh38: Chr5:141618872	DIAPH1	R15W	Autosomal dominant nonsyndromic hearing loss 1, Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome	Uncertain significance (Jul 1, 2022)	criteria provided, single submitter
Select item 209521093.	NM_005219.5(DIAPH1):c.2350_2351dup (p.Trp784fs) GRCh37: Chr5:140953065-140953066 GRCh38: Chr5:141573498-141573499	DIAPH1	W784fs, W775fs	Autosomal dominant nonsyndromic hearing loss 1, Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome	Pathogenic (Aug 15, 2022)	criteria provided, single submitter
Select item 209482794.	NM_005219.5(DIAPH1):c.621-13C>A GRCh37: Chr5:140961955 GRCh38: Chr5:141582388	DIAPH1		Autosomal dominant nonsyndromic hearing loss 1, Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome	Likely benign (Feb 8, 2022)	criteria provided, single submitter
Select item 209424595.	NM_005219.5(DIAPH1):c.3651G>A (p.Gly1217=) GRCh37: Chr5:140903720 GRCh38: Chr5:141524153	DIAPH1		Autosomal dominant nonsyndromic hearing loss 1, Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome	Likely benign (Feb 6, 2022)	criteria provided, single submitter
Select item 209359096.	NM_005219.5(DIAPH1):c.761A>G (p.Asn254Ser) GRCh37: Chr5:140960374 GRCh38: Chr5:141580807	DIAPH1	N245S, N254S	Autosomal dominant nonsyndromic hearing loss 1, Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome	Uncertain significance (Feb 5, 2022)	criteria provided, single submitter
Select item 209336397.	NM_005219.5(DIAPH1):c.3084G>A (p.Glu1028=) GRCh37: Chr5:140908084 GRCh38: Chr5:141528517	DIAPH1		Autosomal dominant nonsyndromic hearing loss 1, Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome	Likely benign (Feb 5, 2022)	criteria provided, single submitter
Select item 208914398.	NM_005219.5(DIAPH1):c.47A>G (p.Asp16Gly) GRCh37: Chr5:140998435 GRCh38: Chr5:141618868	DIAPH1	D16G	Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome, Autosomal dominant nonsyndromic hearing loss 1	Uncertain significance (Jan 22, 2022)	criteria provided, single submitter
Select item 208812999.	NM_005219.5(DIAPH1):c.3019-11_3019-10del GRCh37: Chr5:140908159-140908160 GRCh38: Chr5:141528592-141528593	DIAPH1		Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome, Autosomal dominant nonsyndromic hearing loss 1	Likely benign (Aug 11, 2022)	criteria provided, single submitter
Select item 2088128100.	NM_005219.5(DIAPH1):c.3818A>G (p.Ter1273=) GRCh37: Chr5:140896419 GRCh38: Chr5:141516852	DIAPH1		Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome, Autosomal dominant nonsyndromic hearing loss 1	Uncertain significance (Aug 10, 2022)	criteria provided, single submitter

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