ClinVar for Gene (Select 3769) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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 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 2671587	Single allele	CHRND, LRRFIP1 +123 more	Duplication	not provided	GPathogenic
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 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 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 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
Select item 2336405	NM_002242.4(KCNJ13):c.730T>C (p.Tyr244His)	GIGYF2, KCNJ13 (Y244H +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2200249	NM_002242.4(KCNJ13):c.1020T>C (p.Asp340=)	GIGYF2, KCNJ13	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2199118	NM_002242.4(KCNJ13):c.607C>T (p.Arg203Trp)	GIGYF2, KCNJ13 (R123W +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided +1 more	GUncertain significance
Select item 2198791	NM_002242.4(KCNJ13):c.411A>C (p.Leu137Phe)	GIGYF2, KCNJ13 (L137F +1 more)	Single nucleotide variant (intron variant +1 more)	not provided	GUncertain significance
Select item 2198617	NM_002242.4(KCNJ13):c.7A>G (p.Ser3Gly)	GIGYF2, KCNJ13 (S3G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2196548	NM_002242.4(KCNJ13):c.1081T>C (p.Ter361Gln)	GIGYF2, KCNJ13	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 2193560	NM_002242.4(KCNJ13):c.93G>A (p.Met31Ile)	GIGYF2, KCNJ13 (M31I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2178178	NM_002242.4(KCNJ13):c.460+14del	GIGYF2, KCNJ13	Deletion (intron variant)	not provided	GLikely benign
Select item 2173759	NM_002242.4(KCNJ13):c.630G>A (p.Gln210=)	GIGYF2, KCNJ13	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2169722	NM_002242.4(KCNJ13):c.461-14A>G	GIGYF2, KCNJ13	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2163872	NM_002242.4(KCNJ13):c.921C>T (p.Ser307=)	GIGYF2, KCNJ13	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2155423	NM_002242.4(KCNJ13):c.1032T>C (p.Asn344=)	GIGYF2, KCNJ13	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2141864	NM_002242.4(KCNJ13):c.207T>C (p.Leu69=)	GIGYF2, KCNJ13	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2139900	NM_002242.4(KCNJ13):c.99C>T (p.Gly33=)	GIGYF2, KCNJ13	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2130103	NM_002242.4(KCNJ13):c.683G>C (p.Gly228Ala)	GIGYF2, KCNJ13 (G148A +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 2111478	NM_002242.4(KCNJ13):c.860C>G (p.Ser287Cys)	GIGYF2, KCNJ13 (S287C +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided +1 more	GUncertain significance
Select item 2108877	NM_002242.4(KCNJ13):c.564C>T (p.Ile188=)	GIGYF2, KCNJ13	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2102934	NM_002242.4(KCNJ13):c.697G>A (p.Glu233Lys)	GIGYF2, KCNJ13 (E153K +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 2070772	NM_002242.4(KCNJ13):c.794T>C (p.Phe265Ser)	GIGYF2, KCNJ13 (F185S +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 2060108	NM_002242.4(KCNJ13):c.253C>G (p.Leu85Val)	GIGYF2, KCNJ13 (L5V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2055299	NM_002242.4(KCNJ13):c.290C>T (p.Thr97Ile)	GIGYF2, KCNJ13 (T97I +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2053610	NM_002242.4(KCNJ13):c.152T>C (p.Met51Thr)	GIGYF2, KCNJ13 (M51T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2039175	NM_002242.4(KCNJ13):c.473C>A (p.Ala158Glu)	GIGYF2, KCNJ13 (A78E +1 more)	Single nucleotide variant (synonymous variant +2 more)	not provided	GUncertain significance
Select item 2022617	NM_002242.4(KCNJ13):c.758T>G (p.Leu253Arg)	GIGYF2, KCNJ13 (L173R +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 2018664	NM_002242.4(KCNJ13):c.678T>C (p.Leu226=)	GIGYF2, KCNJ13	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2016096	NM_002242.4(KCNJ13):c.191T>C (p.Phe64Ser)	GIGYF2, KCNJ13 (F64S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2015190	NM_002242.4(KCNJ13):c.133T>G (p.Trp45Gly)	GIGYF2, KCNJ13 (W45G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2006128	NM_002242.4(KCNJ13):c.596_597dup (p.Thr200Ter)	GIGYF2, KCNJ13 (T120* +1 more)	Duplication (3 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 2005326	NM_002242.4(KCNJ13):c.587C>T (p.Pro196Leu)	GIGYF2, KCNJ13 (P116L +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 1993287	NM_002242.4(KCNJ13):c.496C>G (p.Arg166Gly)	GIGYF2, KCNJ13 (R166G +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1965996	NM_002242.4(KCNJ13):c.444A>T (p.Leu148=)	GIGYF2, KCNJ13	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1955883	NM_002242.4(KCNJ13):c.26T>C (p.Ile9Thr)	GIGYF2, KCNJ13 (I9T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1947139	NM_002242.4(KCNJ13):c.146T>C (p.Met49Thr)	GIGYF2, KCNJ13 (M49T)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1933991	NM_002242.4(KCNJ13):c.248G>A (p.Gly83Asp)	GIGYF2, KCNJ13 (G83D +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1722169	NM_002242.4(KCNJ13):c.769C>T (p.Leu257Phe)	GIGYF2, KCNJ13 (L177F +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 1721792	NM_002242.4(KCNJ13):c.977C>T (p.Pro326Leu)	GIGYF2, KCNJ13 (P246L +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1720015	NM_002242.4(KCNJ13):c.220C>G (p.Leu74Val)	GIGYF2, KCNJ13 (L74V)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1719307	NM_002242.4(KCNJ13):c.96T>A (p.Asp32Glu)	GIGYF2, KCNJ13 (D32E)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1718851	NM_002242.4(KCNJ13):c.908T>G (p.Leu303Trp)	GIGYF2, KCNJ13 (L223W +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 1714169	NM_002242.4(KCNJ13):c.778G>A (p.Glu260Lys)	GIGYF2, KCNJ13 (E180K +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 1703651	GRCh37/hg19 2q37.1-37.3(chr2:233227837-242783384)	CHRND, CHRNG +93 more	Copy number loss	Chromosome 2q37 deletion syndrome	GPathogenic
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 1616646	NM_002242.4(KCNJ13):c.405C>A (p.Ile135=)	GIGYF2, KCNJ13	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1616469	NM_002242.4(KCNJ13):c.90A>G (p.Gln30=)	GIGYF2, KCNJ13	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1611613	NM_002242.4(KCNJ13):c.1041C>T (p.Ser347=)	GIGYF2, KCNJ13	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GLikely benign
Select item 1593287	NM_002242.4(KCNJ13):c.845G>A (p.Cys282Tyr)	GIGYF2, KCNJ13 (C202Y +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GLikely benign
Select item 1578209	NM_002242.4(KCNJ13):c.162T>C (p.Arg54=)	GIGYF2, KCNJ13	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1576180	NM_002242.4(KCNJ13):c.906G>A (p.Leu302=)	GIGYF2, KCNJ13	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GLikely benign
Select item 1564191	NM_002242.4(KCNJ13):c.27T>A (p.Ile9=)	GIGYF2, KCNJ13	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1544193	NM_002242.4(KCNJ13):c.1011T>G (p.Thr337=)	GIGYF2, KCNJ13	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GLikely benign
Select item 1536399	NM_002242.4(KCNJ13):c.84A>C (p.Thr28=)	GIGYF2, KCNJ13	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1531623	NM_002242.4(KCNJ13):c.240G>A (p.Glu80=)	GIGYF2, KCNJ13	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 1526962	GRCh37/hg19 2q37.1(chr2:232215111-235593473)	ALPG, ALPI +44 more	Copy number loss	not specified	GLikely pathogenic
Select item 1526959	GRCh37/hg19 2q36.3-37.1(chr2:228807574-235475892)	ALPG, ALPI +61 more	Copy number loss	not specified	GPathogenic
Select item 1526953	GRCh37/hg19 2q35-37.3(chr2:219606537-239217703)	FBXO36, UGT1A5 +147 more	Copy number loss	not specified	GPathogenic
Select item 1523701	NM_002242.4(KCNJ13):c.745C>T (p.Pro249Ser)	GIGYF2, KCNJ13 (P249S +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 1506788	NM_002242.4(KCNJ13):c.653A>G (p.Tyr218Cys)	GIGYF2, KCNJ13 (Y218C +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 1495910	NM_002242.4(KCNJ13):c.774G>C (p.Gln258His)	GIGYF2, KCNJ13 (Q258H +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 1494026	NM_002242.4(KCNJ13):c.131C>A (p.Ala44Asp)	GIGYF2, KCNJ13 (A44D)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1476036	NM_002242.4(KCNJ13):c.961A>G (p.Thr321Ala)	GIGYF2, KCNJ13 (T241A +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 1475056	NM_002242.4(KCNJ13):c.143T>G (p.Leu48Arg)	KCNJ13, GIGYF2 (L48R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance

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