24801[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154960	GRCh38/hg38 17q11.2(chr17:28947825-32490020)x1	ABHD15, ADAP2 +202 more	Copy number loss	See cases	GPathogenic
Select item 3170396	NM_001282129.2(SSH2):c.35C>A (p.Pro12His)	EFCAB5, SSH2 (P12H)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3087432	NM_198529.4(EFCAB5):c.13G>C (p.Ala5Pro)	EFCAB5 (A5P)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 585108	NM_198529.4(EFCAB5):c.42+1G>A	EFCAB5	Single nucleotide variant (intron variant +1 more)	not provided	GLikely benign
Select item 3274626	NM_198529.4(EFCAB5):c.127G>A (p.Val43Ile)	EFCAB5 (V43I)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2408187	NM_198529.4(EFCAB5):c.130C>T (p.Pro44Ser)	EFCAB5 (P44S)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GLikely benign
Select item 3040137	NM_198529.4(EFCAB5):c.191A>G (p.Glu64Gly)	EFCAB5 (E64G +1 more)	Single nucleotide variant (missense variant +1 more)	EFCAB5-related disorder	GLikely benign
Select item 2338584	NM_198529.4(EFCAB5):c.248C>G (p.Thr83Ser)	EFCAB5 (T83S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2343347	NM_198529.4(EFCAB5):c.309A>T (p.Glu103Asp)	EFCAB5 (E103D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2281767	NM_198529.4(EFCAB5):c.329C>A (p.Pro110Gln)	EFCAB5 (P110Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3087442	NM_198529.4(EFCAB5):c.352C>T (p.Leu118Phe)	EFCAB5 (L118F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3087450	NM_198529.4(EFCAB5):c.454C>A (p.Pro152Thr)	EFCAB5 (P152T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3087451	NM_198529.4(EFCAB5):c.464A>G (p.Asn155Ser)	EFCAB5 (N155S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2521502	NM_198529.4(EFCAB5):c.475G>C (p.Glu159Gln)	EFCAB5 (E103Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3087452	NM_198529.4(EFCAB5):c.488C>T (p.Thr163Ile)	EFCAB5 (T107I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2647618	NM_198529.4(EFCAB5):c.504G>C (p.Leu168=)	EFCAB5	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3043607	NM_198529.4(EFCAB5):c.550C>A (p.Pro184Thr)	EFCAB5 (P128T +1 more)	Single nucleotide variant (missense variant +1 more)	EFCAB5-related disorder	GBenign
Select item 3044161	NM_198529.4(EFCAB5):c.551C>A (p.Pro184His)	EFCAB5 (P128H +1 more)	Single nucleotide variant (missense variant +1 more)	EFCAB5-related disorder	GBenign
Select item 2262709	NM_198529.4(EFCAB5):c.607G>A (p.Asp203Asn)	EFCAB5 (D147N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2287433	NM_198529.4(EFCAB5):c.661A>C (p.Asn221His)	EFCAB5 (N165H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3274618	NM_198529.4(EFCAB5):c.684C>A (p.Asp228Glu)	EFCAB5 (D228E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3274623	NM_198529.4(EFCAB5):c.707G>A (p.Arg236Lys)	EFCAB5 (R236K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3274625	NM_198529.4(EFCAB5):c.713T>C (p.Met238Thr)	EFCAB5 (M182T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2478125	NM_198529.4(EFCAB5):c.727G>A (p.Glu243Lys)	EFCAB5 (E187K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3087453	NM_198529.4(EFCAB5):c.821T>C (p.Ile274Thr)	EFCAB5 (I218T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2255697	NM_198529.4(EFCAB5):c.854G>A (p.Arg285Gln)	EFCAB5 (R229Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3274619	NM_198529.4(EFCAB5):c.880G>A (p.Asp294Asn)	EFCAB5 (D238N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3055261	NM_198529.4(EFCAB5):c.887G>A (p.Trp296Ter)	EFCAB5 (W240* +1 more)	Single nucleotide variant (nonsense +1 more)	EFCAB5-related disorder	GLikely benign
Select item 2261716	NM_198529.4(EFCAB5):c.1048A>G (p.Ile350Val)	EFCAB5 (I350V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2403812	NM_198529.4(EFCAB5):c.1154G>A (p.Arg385Gln)	EFCAB5 (R329Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3274624	NM_198529.4(EFCAB5):c.1186T>G (p.Cys396Gly)	EFCAB5 (C340G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3087430	NM_198529.4(EFCAB5):c.1201G>A (p.Val401Ile)	EFCAB5 (V401I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2528890	NM_198529.4(EFCAB5):c.1202T>G (p.Val401Gly)	EFCAB5 (V345G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3039183	NM_198529.4(EFCAB5):c.1271T>G (p.Leu424Arg)	EFCAB5 (L368R +1 more)	Single nucleotide variant (missense variant +1 more)	EFCAB5-related disorder	GBenign
Select item 2647619	NM_198529.4(EFCAB5):c.1286G>A (p.Arg429Gln)	EFCAB5 (R373Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 3048474	NM_198529.4(EFCAB5):c.1374T>C (p.Tyr458=)	EFCAB5	Single nucleotide variant (synonymous variant +1 more)	EFCAB5-related disorder	GLikely benign
Select item 3087431	NM_198529.4(EFCAB5):c.1386C>G (p.Asp462Glu)	EFCAB5 (D406E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2326240	NM_198529.4(EFCAB5):c.1403T>C (p.Met468Thr)	EFCAB5 (M468T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3033726	NM_198529.4(EFCAB5):c.1441C>G (p.Gln481Glu)	EFCAB5 (Q425E +1 more)	Single nucleotide variant (missense variant +1 more)	EFCAB5-related disorder	GBenign
Select item 3034333	NM_198529.4(EFCAB5):c.1496C>T (p.Ser499Leu)	EFCAB5 (S443L +1 more)	Single nucleotide variant (missense variant +1 more)	EFCAB5-related disorder	GBenign
Select item 2456782	NM_198529.4(EFCAB5):c.1580A>C (p.Gln527Pro)	EFCAB5 (Q471P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2309395	NM_198529.4(EFCAB5):c.1588A>C (p.Lys530Gln)	EFCAB5 (K530Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3049655	NM_198529.4(EFCAB5):c.1594C>A (p.Pro532Thr)	EFCAB5 (P476T +1 more)	Single nucleotide variant (missense variant +1 more)	EFCAB5-related disorder	GLikely benign
Select item 3087433	NM_198529.4(EFCAB5):c.1631T>C (p.Ile544Thr)	EFCAB5 (I544T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2597203	NM_198529.4(EFCAB5):c.1679G>A (p.Arg560Lys)	EFCAB5 (R560K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3056518	NM_198529.4(EFCAB5):c.1683G>T (p.Arg561Ser)	EFCAB5 (R505S +1 more)	Single nucleotide variant (missense variant +1 more)	EFCAB5-related disorder	GBenign
Select item 2475180	NM_198529.4(EFCAB5):c.1726C>G (p.Gln576Glu)	EFCAB5 (Q520E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2647620	NM_198529.4(EFCAB5):c.1773G>A (p.Val591=)	EFCAB5	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2319407	NM_198529.4(EFCAB5):c.1853G>A (p.Arg618Gln)	EFCAB5 (R618Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3087434	NM_198529.4(EFCAB5):c.1949A>T (p.Lys650Ile)	EFCAB5 (K594I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2469810	NM_198529.4(EFCAB5):c.1976T>G (p.Ile659Arg)	EFCAB5 (I659R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3041535	NM_198529.4(EFCAB5):c.2013A>G (p.Ser671=)	EFCAB5	Single nucleotide variant (synonymous variant +1 more)	EFCAB5-related disorder	GBenign
Select item 2337189	NM_198529.4(EFCAB5):c.2039A>G (p.Lys680Arg)	EFCAB5 (K624R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2258742	NM_198529.4(EFCAB5):c.2077A>G (p.Ile693Val)	EFCAB5 (I693V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3087435	NM_198529.4(EFCAB5):c.2078T>C (p.Ile693Thr)	EFCAB5 (I637T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2647621	NM_198529.4(EFCAB5):c.2097A>G (p.Glu699=)	EFCAB5	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3087436	NM_198529.4(EFCAB5):c.2125G>A (p.Glu709Lys)	EFCAB5 (E709K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2225084	NM_198529.4(EFCAB5):c.2174G>A (p.Ser725Asn)	EFCAB5 (S669N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2387871	NM_198529.4(EFCAB5):c.2299A>T (p.Met767Leu)	EFCAB5 (M767L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3043560	NM_198529.4(EFCAB5):c.2365+5A>G	EFCAB5	Single nucleotide variant (intron variant)	EFCAB5-related disorder	GLikely benign
Select item 3051111	NM_198529.4(EFCAB5):c.2399G>T (p.Cys800Phe)	EFCAB5 (C744F +1 more)	Single nucleotide variant (missense variant +1 more)	EFCAB5-related disorder	GBenign
Select item 2383930	NM_198529.4(EFCAB5):c.2491G>A (p.Ala831Thr)	EFCAB5 (A775T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2360615	NM_198529.4(EFCAB5):c.2509G>A (p.Glu837Lys)	EFCAB5 (E837K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2471551	NM_198529.4(EFCAB5):c.2640G>T (p.Lys880Asn)	EFCAB5 (K880N)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3274621	NM_198529.4(EFCAB5):c.2710G>A (p.Gly904Arg)	EFCAB5 (G904R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3053146	NM_198529.4(EFCAB5):c.2738-5079G>A	EFCAB5	Single nucleotide variant (synonymous variant +2 more)	EFCAB5-related disorder	GLikely benign
Select item 3041705	NM_198529.4(EFCAB5):c.2778C>T (p.His926=)	EFCAB5	Single nucleotide variant (synonymous variant)	EFCAB5-related disorder	GBenign
Select item 3087437	NM_198529.4(EFCAB5):c.2819A>C (p.Glu940Ala)	EFCAB5 (E940A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544952	NM_198529.4(EFCAB5):c.2868T>G (p.Ser956Arg)	EFCAB5 (S956R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2409838	NM_198529.4(EFCAB5):c.2888A>G (p.Asn963Ser)	EFCAB5 (N963S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2507590	NM_198529.4(EFCAB5):c.2977G>A (p.Gly993Arg)	EFCAB5 (G993R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463475	NM_198529.4(EFCAB5):c.2993C>T (p.Pro998Leu)	EFCAB5 (P998L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3052291	NM_198529.4(EFCAB5):c.3009C>A (p.Thr1003=)	EFCAB5	Single nucleotide variant (synonymous variant)	EFCAB5-related disorder	GLikely benign
Select item 2266377	NM_198529.4(EFCAB5):c.3041A>G (p.His1014Arg)	EFCAB5 (H1014R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292364	NM_198529.4(EFCAB5):c.3042T>A (p.His1014Gln)	EFCAB5 (H1014Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542065	NM_198529.4(EFCAB5):c.3070T>G (p.Ser1024Ala)	EFCAB5 (S1024A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3042951	NM_198529.4(EFCAB5):c.3161T>C (p.Leu1054Pro)	EFCAB5 (L1054P)	Single nucleotide variant (missense variant)	EFCAB5-related disorder	GLikely benign
Select item 3046843	NM_198529.4(EFCAB5):c.3198-8T>C	EFCAB5	Single nucleotide variant (intron variant)	EFCAB5-related disorder	GLikely benign
Select item 3087440	NM_198529.4(EFCAB5):c.3218G>C (p.Gly1073Ala)	EFCAB5 (G1073A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087439	NM_198529.4(EFCAB5):c.3218G>A (p.Gly1073Glu)	EFCAB5 (G1073E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3059423	NM_198529.4(EFCAB5):c.3303T>G (p.Gly1101=)	EFCAB5	Single nucleotide variant (synonymous variant)	EFCAB5-related disorder	GBenign
Select item 3274617	NM_198529.4(EFCAB5):c.3338T>G (p.Met1113Arg)	EFCAB5 (M1113R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535490	NM_198529.4(EFCAB5):c.3339G>A (p.Met1113Ile)	EFCAB5 (M1113I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3040267	NM_198529.4(EFCAB5):c.3358G>T (p.Ala1120Ser)	EFCAB5 (A1120S)	Single nucleotide variant (missense variant)	EFCAB5-related disorder	GLikely benign
Select item 2647622	NM_198529.4(EFCAB5):c.3384C>T (p.His1128=)	EFCAB5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2226034	NM_198529.4(EFCAB5):c.3384C>A (p.His1128Gln)	EFCAB5 (H1128Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3274627	NM_198529.4(EFCAB5):c.3407A>G (p.His1136Arg)	EFCAB5 (H1136R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2559021	NM_198529.4(EFCAB5):c.3463G>A (p.Val1155Ile)	EFCAB5 (V1155I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510196	NM_198529.4(EFCAB5):c.3470G>C (p.Ser1157Thr)	EFCAB5 (S1157T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3033425	NM_198529.4(EFCAB5):c.3526A>G (p.Thr1176Ala)	EFCAB5 (T1176A)	Single nucleotide variant (missense variant)	EFCAB5-related disorder	GLikely benign
Select item 2616735	NM_198529.4(EFCAB5):c.3527C>T (p.Thr1176Ile)	EFCAB5 (T1176I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3040099	NM_198529.4(EFCAB5):c.3540C>T (p.Thr1180=)	EFCAB5	Single nucleotide variant (synonymous variant)	EFCAB5-related disorder	GLikely benign
Select item 2226903	NM_198529.4(EFCAB5):c.3623T>C (p.Leu1208Pro)	EFCAB5 (L1208P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087443	NM_198529.4(EFCAB5):c.3673T>G (p.Cys1225Gly)	EFCAB5 (C1225G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087444	NM_198529.4(EFCAB5):c.3731C>T (p.Ser1244Phe)	EFCAB5 (S1244F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3050078	NM_198529.4(EFCAB5):c.3755T>C (p.Val1252Ala)	EFCAB5 (V1252A)	Single nucleotide variant (missense variant)	EFCAB5-related disorder	GLikely benign
Select item 2486666	NM_198529.4(EFCAB5):c.3771G>C (p.Glu1257Asp)	EFCAB5 (E1257D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555819	NM_198529.4(EFCAB5):c.3784G>C (p.Ala1262Pro)	EFCAB5 (A1262P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3034135	NM_198529.4(EFCAB5):c.3811G>A (p.Gly1271Ser)	EFCAB5 (G1271S)	Single nucleotide variant (missense variant)	EFCAB5-related disorder	GBenign
Select item 3087445	NM_198529.4(EFCAB5):c.3919A>G (p.Lys1307Glu)	EFCAB5 (K1307E)	Single nucleotide variant (missense variant)	not specified	GLikely benign

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