ClinVar for MedGen (Select 78694) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2953723	NM_002150.3(HPD):c.657G>A (p.Thr219=)	HPD	Single nucleotide variant (synonymous variant)	Hawkinsinuria +1 more	GLikely benign
Select item 2953609	NM_002150.3(HPD):c.415-19G>C	HPD	Single nucleotide variant (intron variant)	Tyrosinemia type III +1 more	GLikely benign
Select item 2953531	NM_002150.3(HPD):c.342C>A (p.Gly114=)	HPD	Single nucleotide variant (synonymous variant)	Tyrosinemia type III +1 more	GLikely benign
Select item 2953417	NM_002150.3(HPD):c.33T>C (p.Pro11=)	HPD	Single nucleotide variant (5 prime UTR variant +1 more)	Tyrosinemia type III +1 more	GLikely benign
Select item 2953137	NM_002150.3(HPD):c.518+14A>G	HPD	Single nucleotide variant (intron variant)	Tyrosinemia type III +1 more	GLikely benign
Select item 2953012	NM_002150.3(HPD):c.760-18_760-16del	HPD	Deletion (intron variant)	Tyrosinemia type III +1 more	GLikely benign
Select item 2952980	NM_002150.3(HPD):c.256del (p.Leu86fs)	HPD, LOC126861662 (L47fs +1 more)	Deletion (frameshift variant)	Tyrosinemia type III +1 more	GPathogenic
Select item 2952827	NM_002150.3(HPD):c.624C>T (p.Arg208=)	HPD	Single nucleotide variant (synonymous variant)	Tyrosinemia type III +1 more	GLikely benign
Select item 2952812	NM_002150.3(HPD):c.198+12C>T	HPD	Single nucleotide variant (intron variant)	Tyrosinemia type III +1 more	GLikely benign
Select item 2952609	NM_002150.3(HPD):c.471G>A (p.Leu157=)	HPD	Single nucleotide variant (synonymous variant)	Tyrosinemia type III +1 more	GLikely benign
Select item 2952116	NM_002150.3(HPD):c.1083C>G (p.Ala361=)	HPD	Single nucleotide variant (synonymous variant)	Tyrosinemia type III +1 more	GLikely benign
Select item 2951774	NM_002150.3(HPD):c.31-20C>T	HPD	Single nucleotide variant (intron variant)	Tyrosinemia type III +1 more	GLikely benign
Select item 2951587	NM_002150.3(HPD):c.1023G>A (p.Gln341=)	HPD	Single nucleotide variant (synonymous variant)	Hawkinsinuria +1 more	GLikely benign
Select item 2951413	NM_002150.3(HPD):c.852A>G (p.Arg284=)	HPD	Single nucleotide variant (synonymous variant)	Hawkinsinuria +1 more	GLikely benign
Select item 2951387	NM_002150.3(HPD):c.759+9G>C	HPD	Single nucleotide variant (intron variant)	Hawkinsinuria +1 more	GLikely benign
Select item 2951365	NM_002150.3(HPD):c.261G>C (p.Val87=)	HPD, LOC126861662	Single nucleotide variant (synonymous variant)	Hawkinsinuria +1 more	GLikely benign
Select item 2950711	NM_002150.3(HPD):c.945T>C (p.Asp315=)	HPD	Single nucleotide variant (synonymous variant)	Hawkinsinuria +1 more	GLikely benign
Select item 2950658	NM_002150.3(HPD):c.954+17A>T	HPD	Single nucleotide variant (intron variant)	Hawkinsinuria +1 more	GLikely benign
Select item 2950625	NM_002150.3(HPD):c.142del (p.Arg48fs)	HPD (R48fs +1 more)	Deletion (frameshift variant)	Hawkinsinuria +1 more	GPathogenic
Select item 2950124	NM_002150.3(HPD):c.831+9C>A	HPD	Single nucleotide variant (intron variant)	Hawkinsinuria +1 more	GLikely benign
Select item 2949601	NM_002150.3(HPD):c.148del (p.Leu50fs)	HPD (L50fs +1 more)	Deletion (frameshift variant)	Tyrosinemia type III +1 more	GPathogenic
Select item 2949557	NM_002150.3(HPD):c.597-18C>T	HPD	Single nucleotide variant (intron variant)	Tyrosinemia type III +1 more	GLikely benign
Select item 2949428	NM_002150.3(HPD):c.597-1G>A	HPD	Single nucleotide variant (splice acceptor variant)	Tyrosinemia type III +1 more	GLikely pathogenic
Select item 2948128	NM_002150.3(HPD):c.865_866del (p.Leu289fs)	HPD (L289fs +1 more)	Deletion (frameshift variant)	Tyrosinemia type III +1 more	GPathogenic
Select item 2948061	NM_002150.3(HPD):c.33T>G (p.Pro11=)	HPD	Single nucleotide variant (5 prime UTR variant +1 more)	Tyrosinemia type III +1 more	GLikely benign
Select item 2947695	NM_002150.3(HPD):c.949C>T (p.Leu317=)	HPD	Single nucleotide variant (synonymous variant)	Tyrosinemia type III +1 more	GLikely benign
Select item 2947545	NM_002150.3(HPD):c.1071+12C>T	HPD	Single nucleotide variant (intron variant)	Tyrosinemia type III +1 more	GLikely benign
Select item 2947498	NM_002150.3(HPD):c.759+19G>C	HPD	Single nucleotide variant (intron variant)	Tyrosinemia type III +1 more	GLikely benign
Select item 2947339	NM_002150.3(HPD):c.199-8T>C	HPD, LOC126861662	Single nucleotide variant (intron variant)	Tyrosinemia type III +1 more	GLikely benign
Select item 2947267	NM_002150.3(HPD):c.324+19G>A	HPD, LOC126861662	Single nucleotide variant (intron variant)	Tyrosinemia type III +1 more	GLikely benign
Select item 2947147	NM_002150.3(HPD):c.957G>A (p.Glu319=)	HPD	Single nucleotide variant (synonymous variant)	Tyrosinemia type III +1 more	GLikely benign
Select item 2946889	NM_002150.3(HPD):c.31-7_31-5del	HPD	Deletion (intron variant)	Tyrosinemia type III +1 more	GLikely benign
Select item 2946803	NM_002150.3(HPD):c.146del (p.Gly49fs)	HPD (G49fs +1 more)	Deletion (frameshift variant)	Tyrosinemia type III +1 more	GPathogenic
Select item 2946663	NM_002150.3(HPD):c.831+16C>A	HPD	Single nucleotide variant (intron variant)	Tyrosinemia type III +1 more	GLikely benign
Select item 2946304	NM_002150.3(HPD):c.1155G>A (p.Glu385=)	HPD	Single nucleotide variant (synonymous variant)	Tyrosinemia type III +1 more	GLikely benign
Select item 2946284	NM_002150.3(HPD):c.699A>G (p.Glu233=)	HPD	Single nucleotide variant (synonymous variant)	Tyrosinemia type III +1 more	GLikely benign
Select item 2946120	NM_002150.3(HPD):c.831+9C>T	HPD	Single nucleotide variant (intron variant)	Tyrosinemia type III +1 more	GLikely benign
Select item 2945860	NM_002150.3(HPD):c.954+9del	HPD	Deletion (intron variant)	Tyrosinemia type III +1 more	GLikely benign
Select item 2945841	NM_002150.3(HPD):c.831+7A>T	HPD	Single nucleotide variant (intron variant)	Tyrosinemia type III +1 more	GLikely benign
Select item 2945797	NM_002150.3(HPD):c.735T>A (p.Pro245=)	HPD	Single nucleotide variant (synonymous variant)	Tyrosinemia type III +1 more	GLikely benign
Select item 2945648	NM_002150.3(HPD):c.1071+13C>T	HPD	Single nucleotide variant (intron variant)	Tyrosinemia type III +1 more	GLikely benign
Select item 2945571	NM_002150.3(HPD):c.519-16C>T	HPD	Single nucleotide variant (intron variant)	Tyrosinemia type III +1 more	GLikely benign
Select item 2945384	NM_002150.3(HPD):c.882G>T (p.Thr294=)	HPD	Single nucleotide variant (synonymous variant)	Tyrosinemia type III +1 more	GLikely benign
Select item 2944719	NM_002150.3(HPD):c.1071+15C>T	HPD	Single nucleotide variant (intron variant)	Tyrosinemia type III +1 more	GLikely benign
Select item 2944718	NM_002150.3(HPD):c.597-10C>T	HPD	Single nucleotide variant (intron variant)	Tyrosinemia type III +1 more	GLikely benign
Select item 2944460	NM_002150.3(HPD):c.760-11C>G	HPD	Single nucleotide variant (intron variant)	Tyrosinemia type III +1 more	GLikely benign
Select item 2944393	NM_002150.3(HPD):c.759+17C>T	HPD	Single nucleotide variant (intron variant)	Tyrosinemia type III +1 more	GLikely benign
Select item 2944024	NM_002150.3(HPD):c.4-2A>G	HPD	Single nucleotide variant (splice acceptor variant)	Tyrosinemia type III +1 more	GLikely pathogenic
Select item 2943897	NM_002150.3(HPD):c.645G>T (p.Thr215=)	HPD	Single nucleotide variant (synonymous variant)	Tyrosinemia type III +1 more	GLikely benign
Select item 2943812	NM_002150.3(HPD):c.596+12del	HPD	Deletion (intron variant)	Tyrosinemia type III +1 more	GLikely benign
Select item 2943810	NM_002150.3(HPD):c.3+20C>A	HPD	Single nucleotide variant (intron variant)	Tyrosinemia type III +1 more	GLikely benign
Select item 2943779	NM_002150.3(HPD):c.1005C>A (p.Ile335=)	HPD	Single nucleotide variant (synonymous variant)	Tyrosinemia type III +1 more	GLikely benign
Select item 2943409	NM_002150.3(HPD):c.42C>T (p.Gly14=)	HPD	Single nucleotide variant (5 prime UTR variant +1 more)	Tyrosinemia type III +1 more	GLikely benign
Select item 2942887	NM_002150.3(HPD):c.414+14G>A	HPD	Single nucleotide variant (intron variant)	Tyrosinemia type III +1 more	GLikely benign
Select item 2942631	NM_002150.3(HPD):c.288T>C (p.Ile96=)	HPD, LOC126861662	Single nucleotide variant (synonymous variant)	Tyrosinemia type III +1 more	GLikely benign
Select item 2942552	NM_002150.3(HPD):c.324+9G>A	HPD, LOC126861662	Single nucleotide variant (intron variant)	Tyrosinemia type III +1 more	GLikely benign
Select item 2942528	NM_002150.3(HPD):c.759+12C>T	HPD	Single nucleotide variant (intron variant)	Tyrosinemia type III +1 more	GLikely benign
Select item 2942513	NM_002150.3(HPD):c.596+18T>C	HPD	Single nucleotide variant (intron variant)	Tyrosinemia type III +1 more	GLikely benign
Select item 2941780	NM_002150.3(HPD):c.3+14C>T	HPD	Single nucleotide variant (intron variant)	Tyrosinemia type III +1 more	GLikely benign
Select item 2941726	NM_002150.3(HPD):c.199-19C>T	HPD, LOC126861662	Single nucleotide variant (intron variant)	Tyrosinemia type III +1 more	GLikely benign
Select item 2941644	NM_002150.3(HPD):c.1072-16C>G	HPD	Single nucleotide variant (intron variant)	Tyrosinemia type III +1 more	GLikely benign
Select item 2941168	NM_002150.3(HPD):c.987A>G (p.Lys329=)	HPD	Single nucleotide variant (synonymous variant)	Hawkinsinuria +1 more	GLikely benign
Select item 2940906	NM_002150.3(HPD):c.831+12C>T	HPD	Single nucleotide variant (intron variant)	Hawkinsinuria +1 more	GLikely benign
Select item 2940900	NM_002150.3(HPD):c.414+11T>C	HPD	Single nucleotide variant (intron variant)	Hawkinsinuria +1 more	GLikely benign
Select item 2940778	NM_002150.3(HPD):c.3+11T>C	HPD	Single nucleotide variant (intron variant)	Hawkinsinuria +1 more	GLikely benign
Select item 2940341	NM_002150.3(HPD):c.798C>T (p.His266=)	HPD	Single nucleotide variant (synonymous variant)	Hawkinsinuria +1 more	GLikely benign
Select item 2940194	NM_002150.3(HPD):c.199-7A>G	HPD, LOC126861662	Single nucleotide variant (intron variant)	Hawkinsinuria +1 more	GLikely benign
Select item 2940068	NM_002150.3(HPD):c.618C>T (p.Phe206=)	HPD	Single nucleotide variant (synonymous variant)	Hawkinsinuria +1 more	GLikely benign
Select item 2939997	NM_002150.3(HPD):c.832-16C>T	HPD	Single nucleotide variant (intron variant)	Hawkinsinuria +1 more	GLikely benign
Select item 2939969	NM_002150.3(HPD):c.732G>A (p.Ala244=)	HPD	Single nucleotide variant (synonymous variant)	Hawkinsinuria +1 more	GLikely benign
Select item 2939726	NM_002150.3(HPD):c.31-1G>A	HPD	Single nucleotide variant (splice acceptor variant)	Hawkinsinuria +1 more	GLikely pathogenic
Select item 2939719	NM_002150.3(HPD):c.684G>A (p.Val228=)	HPD	Single nucleotide variant (synonymous variant)	Hawkinsinuria +1 more	GLikely benign
Select item 2939489	NM_002150.3(HPD):c.250_253dup (p.His85fs)	HPD, LOC126861662 (H46fs +1 more)	Duplication (frameshift variant)	Tyrosinemia type III +1 more	GPathogenic
Select item 2939308	NM_002150.3(HPD):c.30+10C>A	HPD	Single nucleotide variant (intron variant)	Tyrosinemia type III +1 more	GLikely benign
Select item 2939266	NM_002150.3(HPD):c.414+1G>C	HPD	Single nucleotide variant (splice donor variant)	Tyrosinemia type III +1 more	GLikely pathogenic
Select item 2939258	NM_002150.3(HPD):c.415-9C>T	HPD	Single nucleotide variant (intron variant)	Tyrosinemia type III +1 more	GLikely benign
Select item 2939164	NM_002150.3(HPD):c.30+9G>A	HPD	Single nucleotide variant (intron variant)	Tyrosinemia type III +1 more	GLikely benign
Select item 2938524	NM_002150.3(HPD):c.168G>A (p.Glu56=)	HPD	Single nucleotide variant (synonymous variant)	Tyrosinemia type III +1 more	GLikely benign
Select item 2938370	NM_002150.3(HPD):c.36G>A (p.Glu12=)	HPD	Single nucleotide variant (5 prime UTR variant +1 more)	Tyrosinemia type III +1 more	GLikely benign
Select item 2937999	NM_002150.3(HPD):c.519-20_519-19dup	HPD	Duplication (intron variant)	Tyrosinemia type III +1 more	GLikely benign
Select item 2937801	NM_002150.3(HPD):c.993C>T (p.Tyr331=)	HPD	Single nucleotide variant (synonymous variant)	Tyrosinemia type III +1 more	GLikely benign
Select item 2937779	NM_002150.3(HPD):c.1072-4A>G	HPD	Single nucleotide variant (intron variant)	Tyrosinemia type III +1 more	GLikely benign
Select item 2937694	NM_002150.3(HPD):c.3+16A>G	HPD	Single nucleotide variant (intron variant)	Tyrosinemia type III +1 more	GLikely benign
Select item 2937527	NM_002150.3(HPD):c.87C>T (p.Ala29=)	HPD	Single nucleotide variant (5 prime UTR variant +1 more)	Tyrosinemia type III +1 more	GLikely benign
Select item 2937485	NM_002150.3(HPD):c.1032C>T (p.Pro344=)	HPD	Single nucleotide variant (synonymous variant)	Tyrosinemia type III +1 more	GLikely benign
Select item 2937411	NM_002150.3(HPD):c.1072-7G>T	HPD	Single nucleotide variant (intron variant)	Tyrosinemia type III +1 more	GLikely benign
Select item 2937008	NM_002150.3(HPD):c.596+7C>A	HPD	Single nucleotide variant (intron variant)	Tyrosinemia type III +1 more	GLikely benign
Select item 2936776	NM_002150.3(HPD):c.1026C>T (p.Asp342=)	HPD	Single nucleotide variant (synonymous variant)	Tyrosinemia type III +1 more	GLikely benign
Select item 2936523	NM_002150.3(HPD):c.597-20T>C	HPD	Single nucleotide variant (intron variant)	Tyrosinemia type III +1 more	GLikely benign
Select item 2936425	NM_002150.3(HPD):c.31-16_31-15del	HPD	Deletion (intron variant)	Tyrosinemia type III +1 more	GLikely benign
Select item 2936058	NM_002150.3(HPD):c.955-19C>A	HPD	Single nucleotide variant (intron variant)	Tyrosinemia type III +1 more	GLikely benign
Select item 2936018	NM_002150.3(HPD):c.867A>G (p.Leu289=)	HPD	Single nucleotide variant (synonymous variant)	Tyrosinemia type III +1 more	GLikely benign
Select item 2935879	NM_002150.3(HPD):c.1029G>A (p.Arg343=)	HPD	Single nucleotide variant (synonymous variant)	Tyrosinemia type III +1 more	GLikely benign
Select item 2935867	NM_002150.3(HPD):c.832-15T>C	HPD	Single nucleotide variant (intron variant)	Tyrosinemia type III +1 more	GLikely benign
Select item 2935604	NM_002150.3(HPD):c.93+2T>C	HPD	Single nucleotide variant (splice donor variant)	Tyrosinemia type III +1 more	GLikely pathogenic
Select item 2935351	NM_002150.3(HPD):c.597-7C>T	HPD	Single nucleotide variant (intron variant)	Tyrosinemia type III +1 more	GLikely benign
Select item 2935327	NM_002150.3(HPD):c.315C>T (p.Tyr105=)	HPD, LOC126861662	Single nucleotide variant (synonymous variant)	Tyrosinemia type III +1 more	GLikely benign
Select item 2935114	NM_002150.3(HPD):c.518+13C>T	HPD	Single nucleotide variant (intron variant)	Tyrosinemia type III +1 more	GLikely benign
Select item 2935066	NM_002150.3(HPD):c.325-8_325-6del	HPD	Deletion (intron variant)	Tyrosinemia type III +1 more	GLikely benign
Select item 2934732	NM_002150.3(HPD):c.831+11C>T	HPD	Single nucleotide variant (intron variant)	Tyrosinemia type III +1 more	GLikely benign

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