ClinVar for Gene (Select 26058) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3357752	NM_001103146.3(GIGYF2):c.3632A>C (p.Gln1211Pro)	GIGYF2 (Q1205P +2 more)	Single nucleotide variant (missense variant +1 more)	GIGYF2-related disorder	GUncertain significance
Select item 3357218	NM_001103146.3(GIGYF2):c.2784G>C (p.Thr928=)	GIGYF2	Single nucleotide variant (synonymous variant +1 more)	GIGYF2-related disorder	GBenign
Select item 3355808	NM_001103146.3(GIGYF2):c.2173C>G (p.Gln725Glu)	GIGYF2 (Q719E +2 more)	Single nucleotide variant (missense variant +1 more)	GIGYF2-related disorder	GUncertain significance
Select item 3354733	NM_001103146.3(GIGYF2):c.2610G>A (p.Glu870=)	GIGYF2	Single nucleotide variant (synonymous variant +1 more)	GIGYF2-related disorder	GLikely benign
Select item 3349114	NM_002242.4(KCNJ13):c.264T>A (p.Asp88Glu)	GIGYF2, KCNJ13 (D88E +1 more)	Single nucleotide variant (missense variant +1 more)	KCNJ13-related condition	GUncertain significance
Select item 3348669	NM_001103146.3(GIGYF2):c.1313C>T (p.Ser438Leu)	GIGYF2 (S432L +2 more)	Single nucleotide variant (missense variant +1 more)	GIGYF2-related disorder	GUncertain significance
Select item 3287641	NM_002242.4(KCNJ13):c.998G>A (p.Ser333Asn)	GIGYF2, KCNJ13 (S253N +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3281382	NM_001103146.3(GIGYF2):c.2975T>C (p.Val992Ala)	GIGYF2 (V992A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3281381	NM_001103146.3(GIGYF2):c.1696T>G (p.Ser566Ala)	GIGYF2 (S560A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3281380	NM_001103146.3(GIGYF2):c.14C>T (p.Thr5Met)	GIGYF2 (T5M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3281379	NM_001103146.3(GIGYF2):c.1992G>C (p.Gln664His)	GIGYF2 (Q658H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3281378	NM_001103146.3(GIGYF2):c.789T>A (p.Asp263Glu)	GIGYF2 (D263E +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3148939	GRCh37/hg19 2q35-37.3(chr2:216815496-242782258)x3	AAMP, ABCB6 +218 more	Copy number gain	See cases	GPathogenic
Select item 3113321	NM_002242.4(KCNJ13):c.171G>A (p.Met57Ile)	GIGYF2, KCNJ13 (M57I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3099798	NM_001103146.3(GIGYF2):c.3884C>T (p.Thr1295Met)	GIGYF2 (T1289M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3099796	NM_001103146.3(GIGYF2):c.349C>T (p.Pro117Ser)	GIGYF2 (P117S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3099795	NM_001103146.3(GIGYF2):c.2801A>G (p.Asn934Ser)	GIGYF2 (N934S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3099794	NM_001103146.3(GIGYF2):c.250T>C (p.Phe84Leu)	GIGYF2 (F84L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3099793	NM_001103146.3(GIGYF2):c.2117G>A (p.Gly706Asp)	GIGYF2 (G700D +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3099792	NM_001103146.3(GIGYF2):c.1931A>G (p.Gln644Arg)	GIGYF2 (Q665R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3099791	NM_001103146.3(GIGYF2):c.1562C>G (p.Ala521Gly)	GIGYF2 (A521G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3099790	NM_001103146.3(GIGYF2):c.1445C>G (p.Pro482Arg)	GIGYF2 (P482R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3099789	NM_001103146.3(GIGYF2):c.1237C>T (p.Arg413Trp)	GIGYF2 (R407W +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3063985	NM_001103146.3(GIGYF2):c.1317G>C (p.Gln439His)	GIGYF2 (Q433H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3061686	NM_001103146.3(GIGYF2):c.1640-3T>C	GIGYF2	Single nucleotide variant (intron variant)	GIGYF2-related disorder	GLikely benign
Select item 3059905	NM_001103146.3(GIGYF2):c.3626_3646del (p.Leu1209_Gln1215del)	GIGYF2	Deletion (non-coding transcript variant)	GIGYF2-related disorder	GBenign
Select item 3058521	NM_001103146.3(GIGYF2):c.162A>G (p.Lys54=)	GIGYF2	Single nucleotide variant (synonymous variant +1 more)	GIGYF2-related disorder	GLikely benign
Select item 3057769	NM_001103146.3(GIGYF2):c.1047T>A (p.Asp349Glu)	GIGYF2 (D343E +2 more)	Single nucleotide variant (missense variant +1 more)	GIGYF2-related disorder	GLikely benign
Select item 3050052	NM_001103146.3(GIGYF2):c.73A>G (p.Thr25Ala)	GIGYF2 (T25A)	Single nucleotide variant (missense variant +1 more)	GIGYF2-related disorder	GLikely benign
Select item 3046669	NM_001103146.3(GIGYF2):c.2208+9C>T	GIGYF2	Single nucleotide variant (intron variant)	GIGYF2-related disorder	GLikely benign
Select item 3044764	NM_001103146.3(GIGYF2):c.268-11_268-6del	GIGYF2	Deletion (intron variant)	GIGYF2-related disorder	GLikely benign
Select item 3043802	NM_001103146.3(GIGYF2):c.533-10719T>C	GIGYF2, KCNJ13	Single nucleotide variant (synonymous variant +1 more)	GIGYF2-related disorder	GLikely benign
Select item 3043365	NM_001103146.3(GIGYF2):c.3645G>A (p.Gln1215=)	GIGYF2	Single nucleotide variant (synonymous variant +1 more)	GIGYF2-related disorder	GLikely benign
Select item 3043094	NM_001103146.3(GIGYF2):c.3753A>G (p.Gln1251=)	GIGYF2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3042568	NM_001103146.3(GIGYF2):c.129C>T (p.Tyr43=)	GIGYF2	Single nucleotide variant (synonymous variant +1 more)	GIGYF2-related disorder	GLikely benign
Select item 3039772	NM_001103146.3(GIGYF2):c.3630A>G (p.Pro1210=)	GIGYF2	Single nucleotide variant (synonymous variant +1 more)	GIGYF2-related disorder	GBenign
Select item 3038150	NM_001103146.3(GIGYF2):c.1268C>T (p.Pro423Leu)	GIGYF2 (P417L +2 more)	Single nucleotide variant (missense variant +1 more)	GIGYF2-related disorder	GBenign
Select item 3038024	NM_001103146.3(GIGYF2):c.3855G>A (p.Ser1285=)	GIGYF2	Single nucleotide variant (synonymous variant +1 more)	GIGYF2-related disorder	GBenign
Select item 3037673	NM_001103146.3(GIGYF2):c.2151G>A (p.Thr717=)	GIGYF2	Single nucleotide variant (synonymous variant +1 more)	GIGYF2-related disorder	GLikely benign
Select item 3037286	NM_001103146.3(GIGYF2):c.3512A>G (p.His1171Arg)	GIGYF2 (H1165R +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3033809	NM_001103146.3(GIGYF2):c.241C>T (p.Leu81=)	GIGYF2	Single nucleotide variant (synonymous variant +1 more)	GIGYF2-related disorder	GLikely benign
Select item 3033387	NM_001103146.3(GIGYF2):c.1731C>T (p.Phe577=)	GIGYF2	Single nucleotide variant (synonymous variant +1 more)	GIGYF2-related disorder	GBenign
Select item 3029521	NM_001103146.3(GIGYF2):c.3489A>G (p.Glu1163=)	GIGYF2	Single nucleotide variant (synonymous variant +1 more)	GIGYF2-related disorder	GLikely benign
Select item 3028971	NM_001103146.3(GIGYF2):c.2728C>T (p.Gln910Ter)	GIGYF2 (Q904* +2 more)	Single nucleotide variant (nonsense +1 more)	GIGYF2-related disorder	GUncertain significance
Select item 3025222	NM_001103146.3(GIGYF2):c.1910C>T (p.Ala637Val)	GIGYF2 (A631V +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 3015108	NM_002242.4(KCNJ13):c.70G>T (p.Asp24Tyr)	GIGYF2, KCNJ13 (D24Y)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3012727	NM_002242.4(KCNJ13):c.378C>A (p.Phe126Leu)	GIGYF2, KCNJ13 (F46L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3010707	NM_002242.4(KCNJ13):c.542T>C (p.Met181Thr)	GIGYF2, KCNJ13 (M101T +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 3003308	NM_002242.4(KCNJ13):c.696C>T (p.Asp232=)	GIGYF2, KCNJ13	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GLikely benign
Select item 3000740	NM_002242.4(KCNJ13):c.796G>T (p.Glu266Ter)	GIGYF2, KCNJ13 (E186* +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 2971314	NM_002242.4(KCNJ13):c.461-13A>C	GIGYF2, KCNJ13	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2897400	NM_002242.4(KCNJ13):c.594T>A (p.Pro198=)	GIGYF2, KCNJ13	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2889299	NM_002242.4(KCNJ13):c.511C>T (p.Arg171Cys)	GIGYF2, KCNJ13 (R91C +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2880516	NM_002242.4(KCNJ13):c.1002A>C (p.Pro334=)	GIGYF2, KCNJ13	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2870594	NM_002242.4(KCNJ13):c.143dup (p.Met49fs)	GIGYF2, KCNJ13 (M49fs)	Duplication (frameshift variant +1 more)	not provided	GUncertain significance
Select item 2849108	NM_002242.4(KCNJ13):c.1044T>C (p.Ile348=)	GIGYF2, KCNJ13	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2847913	NM_002242.4(KCNJ13):c.561T>C (p.Leu187=)	GIGYF2, KCNJ13	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2821344	NM_002242.4(KCNJ13):c.794T>A (p.Phe265Tyr)	GIGYF2, KCNJ13 (F185Y +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2801954	NM_002242.4(KCNJ13):c.20_21del (p.Lys7fs)	GIGYF2, KCNJ13 (K7fs)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 2790948	NM_002242.4(KCNJ13):c.660C>T (p.Thr220=)	GIGYF2, KCNJ13	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2789050	NM_002242.4(KCNJ13):c.627T>C (p.Tyr209=)	GIGYF2, KCNJ13	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2776056	NM_002242.4(KCNJ13):c.656A>C (p.Gln219Pro)	GIGYF2, KCNJ13 (Q219P +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 2759900	NM_002242.4(KCNJ13):c.726G>A (p.Thr242=)	GIGYF2, KCNJ13	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2759029	NM_002242.4(KCNJ13):c.768G>C (p.Leu256=)	GIGYF2, KCNJ13	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2748238	NM_002242.4(KCNJ13):c.657G>A (p.Gln219=)	GIGYF2, KCNJ13	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2739911	NM_002242.4(KCNJ13):c.512G>A (p.Arg171His)	GIGYF2, KCNJ13 (R91H +1 more)	Single nucleotide variant (synonymous variant +2 more)	not provided	GUncertain significance
Select item 2724933	NM_002242.4(KCNJ13):c.8G>A (p.Ser3Asn)	GIGYF2, KCNJ13 (S3N)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2695376	NM_002242.4(KCNJ13):c.529G>A (p.Val177Ile)	GIGYF2, KCNJ13 (V97I +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 2689129	NM_001103146.3(GIGYF2):c.3443C>T (p.Thr1148Met)	GIGYF2 (T1142M +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2689128	NM_001103146.3(GIGYF2):c.1693A>G (p.Met565Val)	GIGYF2 (M559V +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2685879	GRCh37/hg19 2q36.2-37.3(chr2:225995545-237594511)x3	ACKR3, AGAP1 +79 more	Copy number gain	not provided	GPathogenic
Select item 2685875	GRCh37/hg19 2q35-37.3(chr2:218376403-242783384)x3	AAMP, ABCB6 +208 more	Copy number gain	not provided	GPathogenic
Select item 2682819	NM_001103146.3(GIGYF2):c.3104C>G (p.Ser1035Cys)	GIGYF2 (S1029C +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2671587	Single allele	CHRND, LRRFIP1 +123 more	Duplication	not provided	GPathogenic
Select item 2652016	NM_001103146.3(GIGYF2):c.3846T>C (p.Asn1282=)	GIGYF2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2652015	NM_001103146.3(GIGYF2):c.3673_3684del (p.Pro1225_Gln1228del)	GIGYF2	Deletion (inframe_deletion +1 more)	not provided	GBenign
Select item 2652014	NM_001103146.3(GIGYF2):c.3626_3649del (p.Leu1209_Gln1216del)	GIGYF2	Deletion (inframe_deletion +1 more)	not provided	GLikely benign
Select item 2652013	NM_001103146.3(GIGYF2):c.2835G>T (p.Ser945=)	GIGYF2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2652012	NM_001103146.3(GIGYF2):c.2280A>G (p.Glu760=)	GIGYF2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2652011	NM_001103146.3(GIGYF2):c.1716G>T (p.Ala572=)	GIGYF2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2652010	NM_002242.4(KCNJ13):c.525A>G (p.Thr175=)	GIGYF2, KCNJ13	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2652009	NM_002242.4(KCNJ13):c.914G>A (p.Arg305Gln)	GIGYF2, KCNJ13 (R225Q +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 2635532	NM_001103146.3(GIGYF2):c.171+4A>G	GIGYF2	Single nucleotide variant (intron variant)	GIGYF2-related disorder	GUncertain significance
Select item 2624123	NM_001103146.3(GIGYF2):c.2284C>G (p.Arg762Gly)	GIGYF2 (R762G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2595193	NM_001103146.3(GIGYF2):c.2873G>A (p.Arg958Gln)	GIGYF2 (R958Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2575077	GRCh37/hg19 2q37.1(chr2:232563726-234136887)x3	ALPG, ALPI +19 more	Copy number gain	See cases	GUncertain significance
Select item 2571128	NM_002242.4(KCNJ13):c.403del (p.Ile135fs)	GIGYF2, KCNJ13 (I135fs +1 more)	Deletion (frameshift variant +1 more)	not provided	GLikely pathogenic
Select item 2558194	NM_001103146.3(GIGYF2):c.1274G>C (p.Arg425Thr)	GIGYF2 (R419T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2557117	NM_002242.4(KCNJ13):c.775C>G (p.His259Asp)	GIGYF2, KCNJ13 (H179D +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2552307	NM_001103146.3(GIGYF2):c.181G>T (p.Asp61Tyr)	GIGYF2 (D61Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2542866	NM_001103146.3(GIGYF2):c.2317C>A (p.Gln773Lys)	GIGYF2 (Q767K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2518304	NM_001103146.3(GIGYF2):c.824G>T (p.Ser275Ile)	GIGYF2 (S275I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2515065	NM_001103146.3(GIGYF2):c.1381A>G (p.Thr461Ala)	GIGYF2 (T482A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2492952	NM_001103146.3(GIGYF2):c.2386C>T (p.Arg796Cys)	GIGYF2 (R817C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2471956	NM_001103146.3(GIGYF2):c.3743G>T (p.Ser1248Ile)	GIGYF2 (S1248I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2471454	NM_001103146.3(GIGYF2):c.3107A>G (p.Asn1036Ser)	GIGYF2 (N1036S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2429076	NM_001103146.3(GIGYF2):c.3099+1G>T	GIGYF2	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 2420443	NM_002242.4(KCNJ13):c.907T>C (p.Leu303=)	GIGYF2, KCNJ13	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2417902	NM_002242.4(KCNJ13):c.513C>T (p.Arg171=)	GIGYF2, KCNJ13 (L93F)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
Select item 2414816	NM_002242.4(KCNJ13):c.511C>A (p.Arg171Ser)	GIGYF2, KCNJ13 (R171S +2 more)	Single nucleotide variant (nonsense +2 more)	not provided	GUncertain significance

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