ClinVar for MedGen (Select 347474) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2980495	NM_138425.4(C12orf57):c.53-11C>T	C12orf57	Single nucleotide variant (5 prime UTR variant +2 more)	Temtamy syndrome	GLikely benign
Select item 2959604	NM_138425.4(C12orf57):c.53-7C>T	C12orf57	Single nucleotide variant (5 prime UTR variant +2 more)	Temtamy syndrome	GLikely benign
Select item 2956383	NM_138425.4(C12orf57):c.177G>A (p.Thr59=)	C12orf57	Single nucleotide variant (synonymous variant +1 more)	Temtamy syndrome	GLikely benign
Select item 2911610	NM_138425.4(C12orf57):c.52+17T>G	C12orf57	Single nucleotide variant (intron variant)	Temtamy syndrome	GLikely benign
Select item 2911207	NM_138425.4(C12orf57):c.52+7A>G	C12orf57	Single nucleotide variant (intron variant)	Temtamy syndrome	GLikely benign
Select item 2873746	NM_138425.4(C12orf57):c.195T>G (p.Val65=)	C12orf57	Single nucleotide variant (synonymous variant +1 more)	Temtamy syndrome	GLikely benign
Select item 2868378	NM_138425.4(C12orf57):c.229+11C>G	C12orf57	Single nucleotide variant (intron variant)	Temtamy syndrome	GLikely benign
Select item 2859820	NM_138425.4(C12orf57):c.4del (p.Ala2fs)	C12orf57 (A2fs)	Deletion (frameshift variant +4 more)	Temtamy syndrome	GPathogenic
Select item 2830003	NM_138425.4(C12orf57):c.213C>T (p.Phe71=)	C12orf57	Single nucleotide variant (synonymous variant +1 more)	Temtamy syndrome	GLikely benign
Select item 2807588	NM_138425.4(C12orf57):c.327C>T (p.Pro109=)	C12orf57	Single nucleotide variant (synonymous variant +1 more)	Temtamy syndrome	GLikely benign
Select item 2730840	NM_138425.4(C12orf57):c.53-7C>A	C12orf57	Single nucleotide variant (5 prime UTR variant +2 more)	Temtamy syndrome	GLikely benign
Select item 2716090	NM_138425.4(C12orf57):c.52+10G>A	C12orf57	Single nucleotide variant (intron variant)	Temtamy syndrome	GLikely benign
Select item 2714482	NM_138425.4(C12orf57):c.63G>C (p.Ala21=)	C12orf57	Single nucleotide variant (synonymous variant +2 more)	Temtamy syndrome	GLikely benign
Select item 2711145	NM_138425.4(C12orf57):c.261C>G (p.Ser87=)	C12orf57	Single nucleotide variant (synonymous variant +1 more)	Temtamy syndrome	GLikely benign
Select item 2627440	NM_138425.4(C12orf57):c.3G>A (p.Met1Ile)	C12orf57 (M1I)	Single nucleotide variant (missense variant +4 more)	Temtamy syndrome	GPathogenic
Select item 2442369	NM_138425.4(C12orf57):c.55dup (p.Val19fs)	C12orf57 (V19fs +1 more)	Duplication (frameshift variant +2 more)	Temtamy syndrome	GPathogenic
Select item 2420560	NM_138425.4(C12orf57):c.192G>A (p.Glu64=)	C12orf57	Single nucleotide variant (intron variant +1 more)	Temtamy syndrome	GLikely benign
Select item 2198551	NM_138425.4(C12orf57):c.183C>G (p.Ile61Met)	C12orf57 (I61M +2 more)	Single nucleotide variant (missense variant +1 more)	Temtamy syndrome	GUncertain significance
Select item 2195941	NM_138425.4(C12orf57):c.230-10C>T	C12orf57	Single nucleotide variant (intron variant)	Temtamy syndrome	GLikely benign
Select item 2193565	NM_138425.4(C12orf57):c.53-10T>C	C12orf57	Single nucleotide variant (5 prime UTR variant +2 more)	Temtamy syndrome	GLikely benign
Select item 2168216	NM_138425.4(C12orf57):c.230-15C>T	C12orf57	Single nucleotide variant (intron variant)	Temtamy syndrome	GLikely benign
Select item 2165146	NM_138425.4(C12orf57):c.52+12C>G	C12orf57	Single nucleotide variant (intron variant)	Temtamy syndrome	GLikely benign
Select item 2161002	NM_138425.4(C12orf57):c.154C>T (p.Gln52Ter)	C12orf57 (Q52* +2 more)	Single nucleotide variant (nonsense +1 more)	Temtamy syndrome	GPathogenic
Select item 2144605	NM_138425.4(C12orf57):c.41A>G (p.Glu14Gly)	C12orf57 (E14G)	Single nucleotide variant (missense variant +3 more)	Temtamy syndrome	GUncertain significance
Select item 2143125	NM_138425.4(C12orf57):c.63G>T (p.Ala21=)	C12orf57	Single nucleotide variant (synonymous variant +2 more)	Temtamy syndrome	GLikely benign
Select item 2116638	NM_138425.4(C12orf57):c.52+19A>C	C12orf57	Single nucleotide variant (intron variant)	Temtamy syndrome	GLikely benign
Select item 2103241	NM_138425.4(C12orf57):c.32T>C (p.Leu11Ser)	C12orf57 (L11S)	Single nucleotide variant (intron variant +3 more)	Temtamy syndrome	GUncertain significance
Select item 2097947	NM_138425.4(C12orf57):c.31T>A (p.Leu11Met)	C12orf57 (L11M)	Single nucleotide variant (missense variant +3 more)	Temtamy syndrome	GUncertain significance
Select item 2086511	NM_138425.4(C12orf57):c.6G>T (p.Ala2=)	C12orf57	Single nucleotide variant (synonymous variant +3 more)	Temtamy syndrome	GLikely benign
Select item 2044359	NM_138425.4(C12orf57):c.52+25_52+26insGGGCTGCTGGCCTGGGGTAGTCAAGGCAT	C12orf57	Insertion (intron variant)	Temtamy syndrome	GLikely benign
Select item 2043094	NM_138425.4(C12orf57):c.130T>A (p.Cys44Ser)	C12orf57 (C9S +2 more)	Single nucleotide variant (missense variant +1 more)	Temtamy syndrome	GUncertain significance
Select item 2039401	NM_138425.4(C12orf57):c.256A>C (p.Lys86Gln)	C12orf57 (K86Q +3 more)	Single nucleotide variant (missense variant +1 more)	Temtamy syndrome	GUncertain significance
Select item 2023867	NM_138425.4(C12orf57):c.143del (p.Gly48fs)	C12orf57 (G48fs +2 more)	Deletion (frameshift variant +1 more)	Temtamy syndrome	GPathogenic
Select item 2020371	NM_138425.4(C12orf57):c.368T>C (p.Val123Ala)	C12orf57 (V88A +3 more)	Single nucleotide variant (missense variant +1 more)	Temtamy syndrome	GUncertain significance
Select item 2015803	NM_138425.4(C12orf57):c.139A>G (p.Met47Val)	C12orf57 (M34V +2 more)	Single nucleotide variant (missense variant +1 more)	Temtamy syndrome	GUncertain significance
Select item 2015457	NM_138425.4(C12orf57):c.53-23_53-11del	C12orf57	Deletion (5 prime UTR variant +2 more)	Temtamy syndrome	GLikely benign
Select item 2007136	NM_138425.4(C12orf57):c.230-11C>T	C12orf57	Single nucleotide variant (intron variant)	Temtamy syndrome	GLikely benign
Select item 1998606	NM_138425.4(C12orf57):c.53-12_53-9dup	C12orf57	Duplication (5 prime UTR variant +2 more)	Temtamy syndrome	GLikely benign
Select item 1993030	NM_138425.4(C12orf57):c.52+1G>C	C12orf57	Single nucleotide variant (intron variant +1 more)	Temtamy syndrome	GLikely pathogenic
Select item 1981417	NM_138425.4(C12orf57):c.52+3G>A	C12orf57	Single nucleotide variant (intron variant)	Temtamy syndrome	GUncertain significance
Select item 1980818	NM_138425.4(C12orf57):c.52+17T>C	C12orf57	Single nucleotide variant (intron variant)	Temtamy syndrome	GLikely benign
Select item 1975691	NM_138425.4(C12orf57):c.115G>C (p.Ala39Pro)	C12orf57 (A4P +2 more)	Single nucleotide variant (missense variant +1 more)	Temtamy syndrome	GUncertain significance
Select item 1964862	NM_138425.4(C12orf57):c.90G>A (p.Pro30=)	C12orf57	Single nucleotide variant (synonymous variant +2 more)	Temtamy syndrome	GUncertain significance
Select item 1964294	NM_138425.4(C12orf57):c.19C>T (p.Gln7Ter)	C12orf57 (Q7*)	Single nucleotide variant (nonsense +3 more)	Temtamy syndrome	GPathogenic
Select item 1960811	NM_138425.4(C12orf57):c.53-8del	C12orf57	Deletion (5 prime UTR variant +2 more)	Temtamy syndrome	GLikely benign
Select item 1953186	NM_138425.4(C12orf57):c.5C>T (p.Ala2Val)	C12orf57 (A2V)	Single nucleotide variant (missense variant +3 more)	Temtamy syndrome	GUncertain significance
Select item 1948927	NM_138425.4(C12orf57):c.230-16C>T	C12orf57	Single nucleotide variant (intron variant)	Temtamy syndrome	GLikely benign
Select item 1946090	NM_138425.4(C12orf57):c.52+13C>T	C12orf57	Single nucleotide variant (intron variant)	Temtamy syndrome	GLikely benign
Select item 1933844	NM_138425.4(C12orf57):c.41dup (p.Gln15fs)	C12orf57 (Q15fs)	Duplication (frameshift variant +3 more)	Temtamy syndrome	GPathogenic
Select item 1926488	NM_138425.4(C12orf57):c.230-7C>T	C12orf57	Single nucleotide variant (intron variant)	Temtamy syndrome	GLikely benign
Select item 1681846	NM_138425.4(C12orf57):c.372C>T (p.Ala124=)	C12orf57	Single nucleotide variant (synonymous variant +1 more)	Temtamy syndrome	GLikely benign
Select item 1681845	NM_138425.4(C12orf57):c.367G>A (p.Val123Met)	C12orf57 (V110M +3 more)	Single nucleotide variant (missense variant +1 more)	Temtamy syndrome	GUncertain significance
Select item 1681844	NM_138425.4(C12orf57):c.341C>T (p.Pro114Leu)	C12orf57 (P101L +3 more)	Single nucleotide variant (missense variant +1 more)	Temtamy syndrome	GUncertain significance
Select item 1681843	NM_138425.4(C12orf57):c.341C>A (p.Pro114His)	C12orf57 (P101H +3 more)	Single nucleotide variant (missense variant +1 more)	Temtamy syndrome	GUncertain significance
Select item 1681842	NM_138425.4(C12orf57):c.318T>G (p.Phe106Leu)	C12orf57 (F106L +3 more)	Single nucleotide variant (missense variant +1 more)	Temtamy syndrome	GUncertain significance
Select item 1681841	NM_138425.4(C12orf57):c.317T>A (p.Phe106Tyr)	C12orf57 (F106Y +3 more)	Single nucleotide variant (missense variant +1 more)	Temtamy syndrome	GUncertain significance
Select item 1681840	NM_138425.4(C12orf57):c.291C>T (p.Ser97=)	C12orf57	Single nucleotide variant (synonymous variant +1 more)	Temtamy syndrome	GLikely benign
Select item 1681839	NM_138425.4(C12orf57):c.269C>T (p.Ala90Val)	C12orf57 (A55V +3 more)	Single nucleotide variant (missense variant +1 more)	Temtamy syndrome	GUncertain significance
Select item 1681838	NM_138425.4(C12orf57):c.268G>A (p.Ala90Thr)	C12orf57 (A55T +3 more)	Single nucleotide variant (missense variant +1 more)	Temtamy syndrome	GUncertain significance
Select item 1681837	NM_138425.4(C12orf57):c.253G>A (p.Val85Ile)	C12orf57 (V50I +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1681836	NM_138425.4(C12orf57):c.230-9del	C12orf57	Deletion (intron variant)	Temtamy syndrome	GLikely benign
Select item 1681835	NM_138425.4(C12orf57):c.230-17T>C	C12orf57	Single nucleotide variant (intron variant)	Temtamy syndrome	GLikely benign
Select item 1681834	NM_138425.4(C12orf57):c.230-19C>T	C12orf57	Single nucleotide variant (intron variant)	Temtamy syndrome	GLikely benign
Select item 1681833	NM_138425.4(C12orf57):c.229+2_229+20del	C12orf57	Deletion (splice donor variant +1 more)	Temtamy syndrome	GUncertain significance
Select item 1681832	NM_138425.4(C12orf57):c.216C>T (p.Ser72=)	C12orf57	Single nucleotide variant (synonymous variant +1 more)	Temtamy syndrome	GLikely benign
Select item 1681831	NM_138425.4(C12orf57):c.147G>A (p.Lys49=)	C12orf57	Single nucleotide variant (synonymous variant +1 more)	Temtamy syndrome	GLikely benign
Select item 1681830	NM_138425.4(C12orf57):c.123T>A (p.Asp41Glu)	C12orf57 (D28E +2 more)	Single nucleotide variant (missense variant +1 more)	Temtamy syndrome	GUncertain significance
Select item 1681829	NM_138425.4(C12orf57):c.107T>C (p.Met36Thr)	C12orf57 (M1T +2 more)	Single nucleotide variant (missense variant +2 more)	Temtamy syndrome	GUncertain significance
Select item 1681828	NM_138425.4(C12orf57):c.89C>T (p.Pro30Leu)	C12orf57 (P17L +1 more)	Single nucleotide variant (missense variant +2 more)	Temtamy syndrome	GUncertain significance
Select item 1681827	NM_138425.4(C12orf57):c.89C>G (p.Pro30Arg)	C12orf57 (P17R +1 more)	Single nucleotide variant (missense variant +2 more)	Temtamy syndrome	GUncertain significance
Select item 1681826	NM_138425.4(C12orf57):c.72C>G (p.Ile24Met)	C12orf57 (I11M +1 more)	Single nucleotide variant (missense variant +2 more)	Temtamy syndrome	GUncertain significance
Select item 1681825	NM_138425.4(C12orf57):c.63G>A (p.Ala21=)	C12orf57	Single nucleotide variant (synonymous variant +2 more)	Temtamy syndrome	GLikely benign
Select item 1681824	NM_138425.4(C12orf57):c.53-15G>A	C12orf57	Single nucleotide variant (5 prime UTR variant +2 more)	Temtamy syndrome	GLikely benign
Select item 1681823	NM_138425.4(C12orf57):c.53-18G>C	C12orf57	Single nucleotide variant (non-coding transcript variant +2 more)	Temtamy syndrome	GLikely benign
Select item 1681822	NM_138425.4(C12orf57):c.52+18C>T	C12orf57	Single nucleotide variant (intron variant)	Temtamy syndrome	GLikely benign
Select item 1681821	NM_138425.4(C12orf57):c.52+18C>G	C12orf57	Single nucleotide variant (intron variant)	Temtamy syndrome	GLikely benign
Select item 1681820	NM_138425.4(C12orf57):c.52+16G>C	C12orf57	Single nucleotide variant (intron variant)	Temtamy syndrome	GLikely benign
Select item 1681819	NM_138425.4(C12orf57):c.52+15A>T	C12orf57	Single nucleotide variant (intron variant)	Temtamy syndrome	GLikely benign
Select item 1681818	NM_138425.4(C12orf57):c.52+14T>C	C12orf57	Single nucleotide variant (intron variant)	Temtamy syndrome	GLikely benign
Select item 1681817	NM_138425.4(C12orf57):c.52+12C>T	C12orf57	Single nucleotide variant (intron variant)	Temtamy syndrome	GLikely benign
Select item 1681816	NM_138425.4(C12orf57):c.36C>T (p.Ser12=)	C12orf57	Single nucleotide variant (synonymous variant +3 more)	Temtamy syndrome	GLikely benign
Select item 1681815	NM_138425.4(C12orf57):c.35G>T (p.Ser12Ile)	C12orf57 (S12I)	Single nucleotide variant (missense variant +3 more)	Temtamy syndrome +1 more	GUncertain significance
Select item 1681814	NM_138425.4(C12orf57):c.30C>G (p.Ala10=)	C12orf57	Single nucleotide variant (synonymous variant +3 more)	Temtamy syndrome	GLikely benign
Select item 1681813	NM_138425.4(C12orf57):c.21A>G (p.Gln7=)	C12orf57	Single nucleotide variant (synonymous variant +3 more)	Temtamy syndrome	GUncertain significance
Select item 1681812	NM_138425.4(C12orf57):c.18C>G (p.Thr6=)	C12orf57	Single nucleotide variant (synonymous variant +3 more)	Temtamy syndrome	GLikely benign
Select item 1681811	NM_138425.4(C12orf57):c.15G>C (p.Ser5=)	C12orf57	Single nucleotide variant (synonymous variant +3 more)	Temtamy syndrome	GLikely benign
Select item 1681810	NM_138425.4(C12orf57):c.8C>T (p.Ser3Phe)	C12orf57 (S3F)	Single nucleotide variant (missense variant +3 more)	Temtamy syndrome	GUncertain significance
Select item 1409561	NC_000012.11:g.(?_6438478)_(8248686_?)dup	COPS7A, DPPA3 +57 more	Duplication	Temtamy syndrome	GUncertain significance
Select item 1244254	NM_138425.4(C12orf57):c.53_54del	C12orf57	Deletion (splice acceptor variant +2 more)	Temtamy syndrome	GPathogenic
Select item 1192591	NM_138425.4(C12orf57):c.52+26A>G	C12orf57	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1181162	NM_138425.4(C12orf57):c.230-75G>A	C12orf57	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1159199	NM_138425.4(C12orf57):c.45A>G (p.Gln15=)	C12orf57	Single nucleotide variant (synonymous variant +3 more)	Temtamy syndrome	GLikely benign
Select item 1158688	NM_138425.4(C12orf57):c.303G>A (p.Lys101=)	C12orf57	Single nucleotide variant (synonymous variant +1 more)	Temtamy syndrome	GLikely benign
Select item 1156069	NM_138425.4(C12orf57):c.15G>T (p.Ser5=)	C12orf57	Single nucleotide variant (synonymous variant +3 more)	Temtamy syndrome	GLikely benign
Select item 1146613	NM_138425.4(C12orf57):c.123T>C (p.Asp41=)	C12orf57	Single nucleotide variant (synonymous variant +1 more)	Temtamy syndrome	GLikely benign
Select item 1146223	NM_138425.4(C12orf57):c.163C>T (p.Leu55=)	C12orf57	Single nucleotide variant (synonymous variant +1 more)	Temtamy syndrome	GLikely benign
Select item 1141252	NM_138425.4(C12orf57):c.156A>G (p.Gln52=)	C12orf57	Single nucleotide variant (synonymous variant +1 more)	Temtamy syndrome	GLikely benign
Select item 1140962	NM_138425.4(C12orf57):c.375C>T (p.Ala125=)	C12orf57	Single nucleotide variant (synonymous variant +1 more)	Temtamy syndrome	GLikely benign
Select item 1140528	NM_138425.4(C12orf57):c.93G>A (p.Glu31=)	C12orf57	Single nucleotide variant (synonymous variant +2 more)	Temtamy syndrome	GLikely benign
Select item 1139625	NM_138425.4(C12orf57):c.168C>G (p.Pro56=)	C12orf57	Single nucleotide variant (synonymous variant +1 more)	Temtamy syndrome	GLikely benign

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