ClinVar for MedGen (Select 481515) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3377705	NM_001130823.3(DNMT1):c.292G>T (p.Ala98Ser)	DNMT1 (A98S)	Single nucleotide variant (missense variant +1 more)	Hereditary sensory neuropathy-deafness-dementia syndrome	GUncertain significance
Select item 3254758	NM_001130823.3(DNMT1):c.3388G>A (p.Gly1130Arg)	DNMT1 (G1009R +2 more)	Single nucleotide variant (missense variant)	Hereditary sensory neuropathy-deafness-dementia syndrome	GUncertain significance
Select item 3248490	NC_000019.9:g.(?_10244343)_(10257220_?)del	DNMT1	Deletion	Hereditary sensory neuropathy-deafness-dementia syndrome	GUncertain significance
Select item 3248489	NC_000019.9:g.(?_10259540)_(10305575_?)del	DNMT1	Deletion	Hereditary sensory neuropathy-deafness-dementia syndrome	GUncertain significance
Select item 3023493	NM_001130823.3(DNMT1):c.2738C>T (p.Ala913Val)	DNMT1 (A792V +2 more)	Single nucleotide variant (missense variant)	Hereditary sensory neuropathy-deafness-dementia syndrome	GUncertain significance
Select item 3022804	NM_001130823.3(DNMT1):c.446-15A>C	DNMT1	Single nucleotide variant (intron variant)	Hereditary sensory neuropathy-deafness-dementia syndrome	GLikely benign
Select item 3022721	NM_001130823.3(DNMT1):c.2117+4G>C	DNMT1	Single nucleotide variant (intron variant)	Hereditary sensory neuropathy-deafness-dementia syndrome	GUncertain significance
Select item 3022127	NM_001130823.3(DNMT1):c.3132C>T (p.His1044=)	DNMT1	Single nucleotide variant (synonymous variant)	Hereditary sensory neuropathy-deafness-dementia syndrome	GLikely benign
Select item 3021173	NM_001130823.3(DNMT1):c.648+17C>G	DNMT1	Single nucleotide variant (intron variant)	Hereditary sensory neuropathy-deafness-dementia syndrome	GLikely benign
Select item 3020854	NM_001130823.3(DNMT1):c.208A>G (p.Lys70Glu)	DNMT1 (K70E)	Single nucleotide variant (missense variant +1 more)	Hereditary sensory neuropathy-deafness-dementia syndrome	GUncertain significance
Select item 3017343	NM_001130823.3(DNMT1):c.2241C>T (p.Ile747=)	DNMT1	Single nucleotide variant (synonymous variant)	Hereditary sensory neuropathy-deafness-dementia syndrome	GLikely benign
Select item 3014981	NM_001130823.3(DNMT1):c.683G>A (p.Arg228Gln)	DNMT1 (R107Q +2 more)	Single nucleotide variant (missense variant)	Hereditary sensory neuropathy-deafness-dementia syndrome	GUncertain significance
Select item 3014733	NM_001130823.3(DNMT1):c.1008+7G>T	DNMT1	Single nucleotide variant (intron variant)	Hereditary sensory neuropathy-deafness-dementia syndrome	GLikely benign
Select item 3012230	NM_001130823.3(DNMT1):c.184T>C (p.Cys62Arg)	DNMT1 (C62R)	Single nucleotide variant (missense variant +1 more)	Hereditary sensory neuropathy-deafness-dementia syndrome	GUncertain significance
Select item 3011624	NM_001130823.3(DNMT1):c.2587-16A>G	DNMT1	Single nucleotide variant (intron variant)	Hereditary sensory neuropathy-deafness-dementia syndrome	GLikely benign
Select item 3010158	NM_001130823.3(DNMT1):c.403C>T (p.Pro135Ser)	DNMT1 (P135S +1 more)	Single nucleotide variant (missense variant)	Hereditary sensory neuropathy-deafness-dementia syndrome	GUncertain significance
Select item 3009438	NM_001130823.3(DNMT1):c.3078T>C (p.Asn1026=)	DNMT1	Single nucleotide variant (synonymous variant)	Hereditary sensory neuropathy-deafness-dementia syndrome	GLikely benign
Select item 3003402	NM_001130823.3(DNMT1):c.4415G>A (p.Arg1472Gln)	DNMT1 (R1472Q +2 more)	Single nucleotide variant (missense variant)	Hereditary sensory neuropathy-deafness-dementia syndrome	GLikely benign
Select item 3003227	NM_001130823.3(DNMT1):c.935A>G (p.Lys312Arg)	DNMT1 (K312R +2 more)	Single nucleotide variant (missense variant)	Hereditary sensory neuropathy-deafness-dementia syndrome	GUncertain significance
Select item 3002351	NM_001130823.3(DNMT1):c.2701A>G (p.Thr901Ala)	DNMT1 (T780A +2 more)	Single nucleotide variant (missense variant)	Hereditary sensory neuropathy-deafness-dementia syndrome	GUncertain significance
Select item 3001550	NM_001130823.3(DNMT1):c.3676C>T (p.Arg1226Trp)	DNMT1 (R1105W +2 more)	Single nucleotide variant (missense variant)	Hereditary sensory neuropathy-deafness-dementia syndrome	GUncertain significance
Select item 3000355	NM_001130823.3(DNMT1):c.298A>T (p.Asn100Tyr)	DNMT1 (N100Y)	Single nucleotide variant (missense variant +1 more)	Hereditary sensory neuropathy-deafness-dementia syndrome	GUncertain significance
Select item 3000229	NM_001130823.3(DNMT1):c.1026A>G (p.Lys342=)	DNMT1	Single nucleotide variant (synonymous variant)	Hereditary sensory neuropathy-deafness-dementia syndrome	GLikely benign
Select item 2999984	NM_001130823.3(DNMT1):c.1790T>C (p.Met597Thr)	DNMT1 (M597T +2 more)	Single nucleotide variant (missense variant)	Hereditary sensory neuropathy-deafness-dementia syndrome	GUncertain significance
Select item 2998932	NM_001130823.3(DNMT1):c.684-9del	DNMT1	Deletion (intron variant)	Hereditary sensory neuropathy-deafness-dementia syndrome	GLikely benign
Select item 2997887	NM_001130823.3(DNMT1):c.2938G>A (p.Val980Met)	DNMT1 (V964M +2 more)	Single nucleotide variant (missense variant)	Hereditary sensory neuropathy-deafness-dementia syndrome	GUncertain significance
Select item 2997347	NM_001130823.3(DNMT1):c.3510A>C (p.Gly1170=)	DNMT1	Single nucleotide variant (synonymous variant)	Hereditary sensory neuropathy-deafness-dementia syndrome	GLikely benign
Select item 2997010	NM_001130823.3(DNMT1):c.4305A>T (p.Ala1435=)	DNMT1	Single nucleotide variant (synonymous variant)	Hereditary sensory neuropathy-deafness-dementia syndrome	GLikely benign
Select item 2996202	NM_001130823.3(DNMT1):c.3463C>T (p.Leu1155=)	DNMT1	Single nucleotide variant (synonymous variant)	Hereditary sensory neuropathy-deafness-dementia syndrome	GLikely benign
Select item 2995412	NM_001130823.3(DNMT1):c.1044-17T>A	DNMT1	Single nucleotide variant (intron variant)	Hereditary sensory neuropathy-deafness-dementia syndrome	GLikely benign
Select item 2994486	NM_001130823.3(DNMT1):c.106T>C (p.Leu36=)	DNMT1, LOC107080555	Single nucleotide variant (synonymous variant +1 more)	Hereditary sensory neuropathy-deafness-dementia syndrome	GLikely benign
Select item 2993839	NM_001130823.3(DNMT1):c.3048C>T (p.Phe1016=)	DNMT1	Single nucleotide variant (synonymous variant)	Hereditary sensory neuropathy-deafness-dementia syndrome	GLikely benign
Select item 2991627	NM_001130823.3(DNMT1):c.23C>G (p.Ala8Gly)	DNMT1, LOC130063472 (A8G)	Single nucleotide variant (missense variant +1 more)	Hereditary sensory neuropathy-deafness-dementia syndrome	GUncertain significance
Select item 2989110	NM_001130823.3(DNMT1):c.4864+16C>T	DNMT1	Single nucleotide variant (intron variant)	Hereditary sensory neuropathy-deafness-dementia syndrome	GLikely benign
Select item 2988373	NM_001130823.3(DNMT1):c.4239G>A (p.Gln1413=)	DNMT1	Single nucleotide variant (synonymous variant)	Hereditary sensory neuropathy-deafness-dementia syndrome	GLikely benign
Select item 2987940	NM_001130823.3(DNMT1):c.1809G>A (p.Leu603=)	DNMT1	Single nucleotide variant (synonymous variant)	Hereditary sensory neuropathy-deafness-dementia syndrome	GLikely benign
Select item 2987019	NM_001130823.3(DNMT1):c.1679G>A (p.Arg560His)	DNMT1 (R439H +2 more)	Single nucleotide variant (missense variant)	Hereditary sensory neuropathy-deafness-dementia syndrome	GUncertain significance
Select item 2986284	NM_001130823.3(DNMT1):c.789T>G (p.Ser263Arg)	DNMT1 (S142R +2 more)	Single nucleotide variant (missense variant)	Hereditary sensory neuropathy-deafness-dementia syndrome	GUncertain significance
Select item 2982891	NM_001130823.3(DNMT1):c.1181C>T (p.Pro394Leu)	DNMT1 (P394L +2 more)	Single nucleotide variant (missense variant)	Hereditary sensory neuropathy-deafness-dementia syndrome	GUncertain significance
Select item 2982402	NM_001130823.3(DNMT1):c.1996C>T (p.Arg666Cys)	DNMT1 (R545C +2 more)	Single nucleotide variant (missense variant)	Hereditary sensory neuropathy-deafness-dementia syndrome	GUncertain significance
Select item 2981899	NM_001130823.3(DNMT1):c.384C>T (p.Pro128=)	DNMT1	Single nucleotide variant (synonymous variant)	Hereditary sensory neuropathy-deafness-dementia syndrome	GLikely benign
Select item 2979010	NM_001130823.3(DNMT1):c.80+13G>T	DNMT1, LOC130063472	Single nucleotide variant (intron variant)	Hereditary sensory neuropathy-deafness-dementia syndrome	GLikely benign
Select item 2978165	NM_001130823.3(DNMT1):c.3874C>T (p.Arg1292Cys)	DNMT1 (R1171C +2 more)	Single nucleotide variant (missense variant)	Hereditary sensory neuropathy-deafness-dementia syndrome	GUncertain significance
Select item 2977718	NM_001130823.3(DNMT1):c.1641C>T (p.Ile547=)	DNMT1	Single nucleotide variant (synonymous variant)	Hereditary sensory neuropathy-deafness-dementia syndrome	GLikely benign
Select item 2977389	NM_001130823.3(DNMT1):c.2390C>G (p.Ala797Gly)	DNMT1 (A797G +2 more)	Single nucleotide variant (missense variant)	Hereditary sensory neuropathy-deafness-dementia syndrome	GUncertain significance
Select item 2975917	NM_001130823.3(DNMT1):c.4656+7G>A	DNMT1, LOC126862853	Single nucleotide variant (intron variant)	Hereditary sensory neuropathy-deafness-dementia syndrome	GLikely benign
Select item 2973110	NM_001130823.3(DNMT1):c.1008+7del	DNMT1	Deletion (intron variant)	Hereditary sensory neuropathy-deafness-dementia syndrome	GLikely benign
Select item 2969940	NM_001130823.3(DNMT1):c.3395-14C>T	DNMT1	Single nucleotide variant (intron variant)	Hereditary sensory neuropathy-deafness-dementia syndrome	GLikely benign
Select item 2969002	NM_001130823.3(DNMT1):c.1698C>A (p.Leu566=)	DNMT1	Single nucleotide variant (synonymous variant)	Hereditary sensory neuropathy-deafness-dementia syndrome	GLikely benign
Select item 2960312	NM_001130823.3(DNMT1):c.446-7del	DNMT1	Deletion (intron variant)	Hereditary sensory neuropathy-deafness-dementia syndrome	GLikely benign
Select item 2958576	NM_001130823.3(DNMT1):c.2586+20C>T	DNMT1	Single nucleotide variant (intron variant)	Hereditary sensory neuropathy-deafness-dementia syndrome	GLikely benign
Select item 2957637	NM_001130823.3(DNMT1):c.2511G>A (p.Glu837=)	DNMT1	Single nucleotide variant (synonymous variant)	Hereditary sensory neuropathy-deafness-dementia syndrome	GLikely benign
Select item 2957257	NM_001130823.3(DNMT1):c.1342G>A (p.Glu448Lys)	DNMT1 (E432K +2 more)	Single nucleotide variant (missense variant)	Hereditary sensory neuropathy-deafness-dementia syndrome	GUncertain significance
Select item 2954862	NM_001130823.3(DNMT1):c.4657-20A>G	DNMT1, LOC126862853	Single nucleotide variant (intron variant)	Hereditary sensory neuropathy-deafness-dementia syndrome	GLikely benign
Select item 2920467	NM_001130823.3(DNMT1):c.4293+14G>A	DNMT1	Single nucleotide variant (intron variant)	Hereditary sensory neuropathy-deafness-dementia syndrome	GLikely benign
Select item 2919456	NM_001130823.3(DNMT1):c.2118-19A>G	DNMT1	Single nucleotide variant (intron variant)	Hereditary sensory neuropathy-deafness-dementia syndrome	GLikely benign
Select item 2918927	NM_001130823.3(DNMT1):c.3949-19C>T	DNMT1	Single nucleotide variant (intron variant)	Hereditary sensory neuropathy-deafness-dementia syndrome	GLikely benign
Select item 2916941	NM_001130823.3(DNMT1):c.121T>C (p.Cys41Arg)	DNMT1 (C41R)	Single nucleotide variant (missense variant +1 more)	Hereditary sensory neuropathy-deafness-dementia syndrome	GUncertain significance
Select item 2916865	NM_001130823.3(DNMT1):c.2277G>A (p.Lys759=)	DNMT1	Single nucleotide variant (synonymous variant)	Hereditary sensory neuropathy-deafness-dementia syndrome	GLikely benign
Select item 2916491	NM_001130823.3(DNMT1):c.4179G>A (p.Val1393=)	DNMT1	Single nucleotide variant (synonymous variant)	Hereditary sensory neuropathy-deafness-dementia syndrome	GLikely benign
Select item 2916486	NM_001130823.3(DNMT1):c.1008+17T>C	DNMT1	Single nucleotide variant (intron variant)	Hereditary sensory neuropathy-deafness-dementia syndrome	GLikely benign
Select item 2916476	NM_001130823.3(DNMT1):c.4125G>A (p.Ser1375=)	DNMT1	Single nucleotide variant (synonymous variant)	Hereditary sensory neuropathy-deafness-dementia syndrome	GLikely benign
Select item 2915663	NM_001130823.3(DNMT1):c.882A>T (p.Gly294=)	DNMT1	Single nucleotide variant (synonymous variant)	Hereditary sensory neuropathy-deafness-dementia syndrome	GLikely benign
Select item 2912196	NM_001130823.3(DNMT1):c.3216G>T (p.Val1072=)	DNMT1	Single nucleotide variant (synonymous variant)	Hereditary sensory neuropathy-deafness-dementia syndrome	GLikely benign
Select item 2911451	NM_001130823.3(DNMT1):c.4794G>A (p.Pro1598=)	DNMT1	Single nucleotide variant (synonymous variant)	Hereditary sensory neuropathy-deafness-dementia syndrome	GLikely benign
Select item 2909282	NM_001130823.3(DNMT1):c.2907C>T (p.Ser969=)	DNMT1	Single nucleotide variant (synonymous variant)	Hereditary sensory neuropathy-deafness-dementia syndrome	GLikely benign
Select item 2908743	NM_001130823.3(DNMT1):c.1689G>A (p.Glu563=)	DNMT1	Single nucleotide variant (synonymous variant)	Hereditary sensory neuropathy-deafness-dementia syndrome	GLikely benign
Select item 2908591	NM_001130823.3(DNMT1):c.3394+5G>A	DNMT1	Single nucleotide variant (intron variant)	Hereditary sensory neuropathy-deafness-dementia syndrome	GUncertain significance
Select item 2908419	NM_001130823.3(DNMT1):c.1399+14C>T	DNMT1	Single nucleotide variant (intron variant)	Hereditary sensory neuropathy-deafness-dementia syndrome	GLikely benign
Select item 2907617	NM_001130823.3(DNMT1):c.587C>G (p.Pro196Arg)	DNMT1 (P196R +2 more)	Single nucleotide variant (missense variant)	Hereditary sensory neuropathy-deafness-dementia syndrome +1 more	GUncertain significance
Select item 2906148	NM_001130823.3(DNMT1):c.3807-18C>T	DNMT1	Single nucleotide variant (intron variant)	Hereditary sensory neuropathy-deafness-dementia syndrome	GLikely benign
Select item 2905174	NM_001130823.3(DNMT1):c.4108A>C (p.Ile1370Leu)	DNMT1 (I1249L +2 more)	Single nucleotide variant (missense variant)	Hereditary sensory neuropathy-deafness-dementia syndrome	GUncertain significance
Select item 2904980	NM_001130823.3(DNMT1):c.2646G>A (p.Gln882=)	DNMT1	Single nucleotide variant (synonymous variant)	Hereditary sensory neuropathy-deafness-dementia syndrome	GLikely benign
Select item 2904496	NM_001130823.3(DNMT1):c.547A>G (p.Ile183Val)	DNMT1 (I183V +2 more)	Single nucleotide variant (missense variant)	Hereditary sensory neuropathy-deafness-dementia syndrome	GUncertain significance
Select item 2898721	NM_001130823.3(DNMT1):c.3948+20C>T	DNMT1	Single nucleotide variant (intron variant)	Hereditary sensory neuropathy-deafness-dementia syndrome	GLikely benign
Select item 2898674	NM_001130823.3(DNMT1):c.2394G>A (p.Leu798=)	DNMT1	Single nucleotide variant (synonymous variant)	Hereditary sensory neuropathy-deafness-dementia syndrome	GLikely benign
Select item 2897802	NM_001130823.3(DNMT1):c.4381C>T (p.Arg1461Trp)	DNMT1 (R1461W +2 more)	Single nucleotide variant (missense variant)	Hereditary sensory neuropathy-deafness-dementia syndrome	GUncertain significance
Select item 2897740	NM_001130823.3(DNMT1):c.55T>C (p.Ser19Pro)	DNMT1, LOC130063472 (S19P)	Single nucleotide variant (missense variant +1 more)	Hereditary sensory neuropathy-deafness-dementia syndrome	GUncertain significance
Select item 2894424	NM_001130823.3(DNMT1):c.4422C>T (p.Thr1474=)	DNMT1	Single nucleotide variant (synonymous variant)	Hereditary sensory neuropathy-deafness-dementia syndrome	GLikely benign
Select item 2892959	NM_001130823.3(DNMT1):c.4489+20G>T	DNMT1	Single nucleotide variant (intron variant)	Hereditary sensory neuropathy-deafness-dementia syndrome	GLikely benign
Select item 2892938	NM_001130823.3(DNMT1):c.844_845delinsTT (p.Ala282Phe)	DNMT1 (A282F +2 more)	Indel (missense variant)	Hereditary sensory neuropathy-deafness-dementia syndrome	GUncertain significance
Select item 2891447	NM_001130823.3(DNMT1):c.3523+11G>A	DNMT1	Single nucleotide variant (intron variant)	Hereditary sensory neuropathy-deafness-dementia syndrome	GLikely benign
Select item 2890340	NM_001130823.3(DNMT1):c.4254C>T (p.Gly1418=)	DNMT1	Single nucleotide variant (synonymous variant)	Hereditary sensory neuropathy-deafness-dementia syndrome	GLikely benign
Select item 2889865	NM_001130823.3(DNMT1):c.570-10dup	DNMT1	Duplication (intron variant)	Hereditary sensory neuropathy-deafness-dementia syndrome	GLikely benign
Select item 2889186	NM_001130823.3(DNMT1):c.48G>A (p.Pro16=)	DNMT1, LOC130063472	Single nucleotide variant (synonymous variant +1 more)	Hereditary sensory neuropathy-deafness-dementia syndrome	GLikely benign
Select item 2887552	NM_001130823.3(DNMT1):c.1089+15G>A	DNMT1	Single nucleotide variant (intron variant)	Hereditary sensory neuropathy-deafness-dementia syndrome	GLikely benign
Select item 2887459	NM_001130823.3(DNMT1):c.4446C>T (p.Arg1482=)	DNMT1	Single nucleotide variant (synonymous variant)	Hereditary sensory neuropathy-deafness-dementia syndrome	GLikely benign
Select item 2887207	NM_001130823.3(DNMT1):c.1302C>T (p.His434=)	DNMT1	Single nucleotide variant (synonymous variant)	Hereditary sensory neuropathy-deafness-dementia syndrome	GLikely benign
Select item 2886985	NM_001130823.3(DNMT1):c.3874C>A (p.Arg1292Ser)	DNMT1 (R1276S +2 more)	Single nucleotide variant (missense variant)	Hereditary sensory neuropathy-deafness-dementia syndrome	GUncertain significance
Select item 2884865	NM_001130823.3(DNMT1):c.1609G>A (p.Asp537Asn)	DNMT1 (D416N +2 more)	Single nucleotide variant (missense variant)	Hereditary sensory neuropathy-deafness-dementia syndrome	GUncertain significance
Select item 2884586	NM_001130823.3(DNMT1):c.1698C>T (p.Leu566=)	DNMT1	Single nucleotide variant (synonymous variant)	Hereditary sensory neuropathy-deafness-dementia syndrome	GLikely benign
Select item 2884490	NM_001130823.3(DNMT1):c.3117-8G>T	DNMT1	Single nucleotide variant (intron variant)	Hereditary sensory neuropathy-deafness-dementia syndrome	GLikely benign
Select item 2881964	NM_001130823.3(DNMT1):c.4773+10dup	DNMT1, LOC126862853	Duplication (intron variant)	Hereditary sensory neuropathy-deafness-dementia syndrome	GBenign
Select item 2880955	NM_001130823.3(DNMT1):c.1281-9C>G	DNMT1	Single nucleotide variant (intron variant)	Hereditary sensory neuropathy-deafness-dementia syndrome	GLikely benign
Select item 2879802	NM_001130823.3(DNMT1):c.81-9T>C	DNMT1, LOC107080555	Single nucleotide variant (intron variant)	Hereditary sensory neuropathy-deafness-dementia syndrome	GLikely benign
Select item 2878198	NM_001130823.3(DNMT1):c.3254C>T (p.Pro1085Leu)	DNMT1 (P1069L +2 more)	Single nucleotide variant (missense variant)	Hereditary sensory neuropathy-deafness-dementia syndrome	GUncertain significance
Select item 2878107	NM_001130823.3(DNMT1):c.439G>T (p.Ala147Ser)	DNMT1 (A147S +1 more)	Single nucleotide variant (missense variant)	Hereditary sensory neuropathy-deafness-dementia syndrome	GUncertain significance
Select item 2877901	NM_001130823.3(DNMT1):c.3090C>G (p.Ile1030Met)	DNMT1 (I1014M +2 more)	Single nucleotide variant (missense variant)	Hereditary sensory neuropathy-deafness-dementia syndrome	GUncertain significance
Select item 2876955	NM_001130823.3(DNMT1):c.4158G>A (p.Thr1386=)	DNMT1	Single nucleotide variant (synonymous variant)	Hereditary sensory neuropathy-deafness-dementia syndrome	GLikely benign
Select item 2873304	NM_001130823.3(DNMT1):c.2019+17G>A	DNMT1	Single nucleotide variant (intron variant)	Hereditary sensory neuropathy-deafness-dementia syndrome	GLikely benign

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