ClinVar for Gene (Select 2677) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3357967	NM_000821.7(GGCX):c.1889-7C>T	GGCX	Single nucleotide variant (intron variant)	GGCX-related disorder	GLikely benign
Select item 3341038	NM_000821.7(GGCX):c.1454G>A (p.Arg485His)	GGCX (R428H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3340370	NM_000821.7(GGCX):c.890-109_890-107del	GGCX	Microsatellite (intron variant)	not provided	GLikely benign
Select item 3335889	NM_000821.7(GGCX):c.1426C>G (p.Arg476Gly)	GGCX (R476G +1 more)	Single nucleotide variant (missense variant)	Vitamin K-dependent clotting factors, combined deficiency of, type 1	GLikely pathogenic
Select item 3281303	NM_000821.7(GGCX):c.1510C>T (p.Pro504Ser)	GGCX (P504S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3281302	NM_000821.7(GGCX):c.2257C>T (p.Pro753Ser)	GGCX (P753S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3281301	NM_000821.7(GGCX):c.1052A>G (p.Lys351Arg)	GGCX (K294R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3247471	NC_000002.11:g.(?_85778214)_(85779781_?)del	GGCX	Deletion	not provided	GPathogenic
Select item 3099596	NM_000821.7(GGCX):c.590T>A (p.Leu197His)	GGCX (L197H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3099595	NM_000821.7(GGCX):c.2240C>T (p.Pro747Leu)	GGCX (P747L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3099593	NM_000821.7(GGCX):c.1931G>C (p.Gly644Ala)	GGCX (G644A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3099592	NM_000821.7(GGCX):c.1785C>G (p.Ser595Arg)	GGCX (S538R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3099591	NM_000821.7(GGCX):c.1442T>A (p.Ile481Asn)	GGCX (I481N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3057469	NM_000821.7(GGCX):c.1741-10C>T	GGCX	Single nucleotide variant (intron variant)	GGCX-related disorder	GLikely benign
Select item 3056441	NM_000821.7(GGCX):c.207T>C (p.Phe69=)	GGCX	Single nucleotide variant (synonymous variant +1 more)	GGCX-related disorder	GLikely benign
Select item 3053161	NM_000821.7(GGCX):c.1896G>A (p.Gly632=)	GGCX	Single nucleotide variant (synonymous variant)	GGCX-related disorder	GLikely benign
Select item 3047674	NM_000821.7(GGCX):c.*5G>A	GGCX	Single nucleotide variant (3 prime UTR variant)	GGCX-related disorder	GLikely benign
Select item 3023945	NM_000821.7(GGCX):c.938_939del (p.Pro313fs)	GGCX (P313fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 3020091	NM_000821.7(GGCX):c.1045C>T (p.Arg349Trp)	GGCX (R292W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3013050	NM_000821.7(GGCX):c.2166T>C (p.Tyr722=)	GGCX	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3012101	NM_000821.7(GGCX):c.1263C>T (p.Gly421=)	GGCX	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3011860	NM_000821.7(GGCX):c.1720C>T (p.Arg574Ter)	GGCX (R517* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 3009554	NM_000821.7(GGCX):c.1889-11C>T	GGCX	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3004458	NM_000821.7(GGCX):c.2038C>T (p.Arg680Ter)	GGCX (R623* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 3000325	NM_000821.7(GGCX):c.1086G>A (p.Leu362=)	GGCX	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2998988	NM_000821.7(GGCX):c.1476T>C (p.Ala492=)	GGCX	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2997264	NM_000821.7(GGCX):c.618+13A>G	GGCX	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2996811	NM_000821.7(GGCX):c.1440-15G>T	GGCX	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2996638	NM_000821.7(GGCX):c.1182G>A (p.Leu394=)	GGCX	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2996388	NM_000821.7(GGCX):c.78A>G (p.Ser26=)	GGCX	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2993924	NM_000821.7(GGCX):c.15C>G (p.Ala5=)	GGCX	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2992238	NM_000821.7(GGCX):c.1741-20C>T	GGCX	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2980250	NM_000821.7(GGCX):c.1659C>A (p.Ile553=)	GGCX	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2979653	NM_000821.7(GGCX):c.1439+2T>C	GGCX	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2977605	NM_000821.7(GGCX):c.214+10G>C	GGCX	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2974373	NM_000821.7(GGCX):c.2217G>A (p.Thr739=)	GGCX	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2967396	NM_000821.7(GGCX):c.1062G>A (p.Gln354=)	GGCX	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2967074	NM_000821.7(GGCX):c.603A>G (p.Ala201=)	GGCX	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2966596	NM_000821.7(GGCX):c.43+20C>T	GGCX	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2961251	NM_000821.7(GGCX):c.539+12G>C	GGCX	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2960652	NM_000821.7(GGCX):c.1610-8T>C	GGCX	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2959240	NM_000821.7(GGCX):c.2084+15_2084+17del	GGCX	Deletion (intron variant)	not provided	GLikely benign
Select item 2956420	NM_000821.7(GGCX):c.2017C>T (p.Arg673Ter)	GGCX (R673* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2910623	NM_000821.7(GGCX):c.2136C>G (p.Ser712=)	GGCX	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2906429	NM_000821.7(GGCX):c.1848A>G (p.Ala616=)	GGCX	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2874874	NM_000821.7(GGCX):c.1610-6T>C	GGCX	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2865090	NM_000821.7(GGCX):c.1666C>T (p.Leu556=)	GGCX	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2856303	NM_000821.7(GGCX):c.1911G>A (p.Glu637=)	GGCX	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2847461	NM_000821.7(GGCX):c.214+8C>T	GGCX	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2836657	NM_000821.7(GGCX):c.1287+19A>T	GGCX	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2830869	NM_000821.7(GGCX):c.619-13A>G	GGCX	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2828280	NM_000821.7(GGCX):c.66T>C (p.Ala22=)	GGCX	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2815663	NM_000821.7(GGCX):c.1260T>C (p.Thr420=)	GGCX	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2802044	NM_000821.7(GGCX):c.1500C>T (p.Ser500=)	GGCX	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2784892	NM_000821.7(GGCX):c.2049C>T (p.Arg683=)	GGCX	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2783619	NM_000821.7(GGCX):c.215-14T>C	GGCX	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2769953	NM_000821.7(GGCX):c.1680G>A (p.Val560=)	GGCX	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2763002	NM_000821.7(GGCX):c.540-13T>G	GGCX	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2759418	NM_000821.7(GGCX):c.444T>A (p.Tyr148Ter)	GGCX (Y91* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2754099	NM_000821.7(GGCX):c.214+12_214+13del	GGCX	Deletion (intron variant)	not provided	GLikely benign
Select item 2745105	NM_000821.7(GGCX):c.1230C>T (p.His410=)	GGCX	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2730340	NM_000821.7(GGCX):c.1417A>G (p.Ile473Val)	GGCX (I473V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2717268	NM_000821.7(GGCX):c.1473C>T (p.Ala491=)	GGCX	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2714016	NM_000821.7(GGCX):c.373+20A>G	GGCX	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2705860	NM_000821.7(GGCX):c.939T>G (p.Pro313=)	GGCX	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2703997	NM_000821.7(GGCX):c.889+20G>T	GGCX	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2693773	NM_000821.7(GGCX):c.1854G>C (p.Leu618=)	GGCX	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2651094	NM_000821.7(GGCX):c.2036A>T (p.Glu679Val)	GGCX (E622V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2631203	NM_000821.7(GGCX):c.1297_1298del (p.Gln433fs)	GGCX (Q376fs +1 more)	Microsatellite (frameshift variant)	GGCX-related disorder +1 more	GPathogenic/Likely pathogenic
Select item 2540963	NM_000821.7(GGCX):c.1907C>G (p.Pro636Arg)	GGCX (P579R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2491677	NM_000821.7(GGCX):c.1984C>G (p.Arg662Gly)	GGCX (R662G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2428428	NM_000821.7(GGCX):c.619-7T>C	GGCX	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2426780	NC_000002.11:g.(?_85766411)_(86564633_?)del	ATOH8, C2orf68 +15 more	Deletion	Hereditary spastic paraplegia 31	GPathogenic
Select item 2421613	NM_000821.7(GGCX):c.406C>T (p.Arg136Trp)	GGCX (R136W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2419308	NM_000821.7(GGCX):c.1540G>A (p.Ala514Thr)	GGCX (A457T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2417468	NM_000821.7(GGCX):c.772G>A (p.Gly258Ser)	GGCX (G201S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2416364	NM_000821.7(GGCX):c.468A>G (p.Ser156=)	GGCX	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2405036	NM_000821.7(GGCX):c.2216C>T (p.Thr739Met)	GGCX (T682M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2397267	NM_000821.7(GGCX):c.1984C>T (p.Arg662Cys)	GGCX (R605C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2373531	NM_000821.7(GGCX):c.885C>G (p.Ser295Arg)	GGCX (S238R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2339309	NM_000821.7(GGCX):c.517T>C (p.Phe173Leu)	GGCX (F116L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2332879	NM_000821.7(GGCX):c.1627T>C (p.Phe543Leu)	GGCX (F486L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2329673	NM_000821.7(GGCX):c.2104T>G (p.Ser702Ala)	GGCX (S702A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2233215	NM_000821.7(GGCX):c.265G>T (p.Asp89Tyr)	GGCX (D32Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2205753	NM_000821.7(GGCX):c.833T>C (p.Ile278Thr)	GGCX (I221T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2203111	NM_000821.7(GGCX):c.247C>T (p.Arg83Trp)	GGCX (R26W +1 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 2203110	NM_000821.7(GGCX):c.944G>A (p.Trp315Ter)	GGCX (W258* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 2203109	NM_000821.7(GGCX):c.1595T>C (p.Ile532Thr)	GGCX (I475T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2187333	NM_000821.7(GGCX):c.2069_2070del (p.Tyr690fs)	GGCX (Y633fs +1 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2184350	NM_000821.7(GGCX):c.322C>T (p.Arg108Cys)	GGCX (R108C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2183126	NM_000821.7(GGCX):c.1374T>C (p.Tyr458=)	GGCX	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2180213	NM_000821.7(GGCX):c.932G>C (p.Cys311Ser)	GGCX (C311S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2175900	NM_000821.7(GGCX):c.1493G>T (p.Arg498Leu)	GGCX (R498L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2174164	NM_000821.7(GGCX):c.2268dup (p.Glu757fs)	GGCX (E757fs +1 more)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 2173799	NM_000821.7(GGCX):c.140G>T (p.Ser47Ile)	GGCX (S47I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2172719	NM_000821.7(GGCX):c.137C>G (p.Ser46Cys)	GGCX (S46C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2160751	NM_000821.7(GGCX):c.1267C>A (p.Leu423Met)	GGCX (L423M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2159900	NM_000821.7(GGCX):c.1772C>T (p.Thr591Met)	GGCX (T534M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2147676	NM_000821.7(GGCX):c.2191G>T (p.Val731Phe)	GGCX (V731F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2146894	NM_000821.7(GGCX):c.1889-7del	GGCX	Deletion (intron variant)	not provided	GLikely benign

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