9894[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59410	GRCh38/hg38 16p13.3(chr16:23141-1712523)x1	ANTKMT, ARHGDIG +194 more	Copy number loss	See cases	GPathogenic
Select item 59409	GRCh38/hg38 16p13.3(chr16:23141-1773349)x1	ANTKMT, ARHGDIG +210 more	Copy number loss	See cases	GPathogenic
Select item 58594	GRCh38/hg38 16p13.3-13.13(chr16:23141-11296695)x3	ABAT, ABCA3 +822 more	Copy number gain	See cases	GPathogenic
Select item 58595	GRCh38/hg38 16p13.3(chr16:29941-2560460)x3	ABCA3, AMDHD2 +356 more	Copy number gain	See cases	GPathogenic
Select item 150284	GRCh38/hg38 16p13.3-13.12(chr16:43732-13326806)x3	EEF2KMT, ELOB +917 more	Copy number gain	See cases	GPathogenic
Select item 148760	GRCh38/hg38 16p13.3(chr16:46722-1867327)x1	ANTKMT, ARHGDIG +224 more	Copy number loss	See cases	GPathogenic
Select item 147509	GRCh38/hg38 16p13.3(chr16:46766-4247185)x3	LOC125146383, LOC125146384 +556 more	Copy number gain	See cases	GPathogenic
Select item 145576	GRCh38/hg38 16p13.3(chr16:46766-1544014)x1	ANTKMT, ARHGDIG +179 more	Copy number loss	See cases	GPathogenic
Select item 144298	GRCh38/hg38 16p13.3-13.13(chr16:46766-11525516)x3	ABAT, ABCA3 +843 more	Copy number gain	See cases	GPathogenic
Select item 59411	GRCh38/hg38 16p13.3(chr16:46766-1997582)x1	ANTKMT, ARHGDIG +253 more	Copy number loss	See cases	GPathogenic
Select item 58597	GRCh38/hg38 16p13.3(chr16:46766-3214623)x3	ARHGDIG, ATP6V0C +482 more	Copy number gain	See cases	GPathogenic
Select item 59425	GRCh38/hg38 16p13.3(chr16:105429-1499893)x1	ANTKMT, ARHGDIG +164 more	Copy number loss	See cases	GPathogenic
Select item 155643	GRCh38/hg38 16p13.3-13.11(chr16:666662-15743104)x3	ABAT, ABCA3 +926 more	Copy number gain	See cases	GPathogenic
Select item 58600	GRCh38/hg38 16p13.3(chr16:1221651-2233773)x3	BAIAP3, BRICD5 +162 more	Copy number gain	See cases	GPathogenic
Select item 58602	GRCh38/hg38 16p13.3(chr16:1278821-1919148)x3	MAPK8IP3, MAPK8IP3-AS1 +88 more	Copy number gain	See cases	GPathogenic
Select item 2229669	NM_016111.4(TELO2):c.7C>A (p.Pro3Thr)	TELO2 (P3T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2525406	NM_016111.4(TELO2):c.14C>G (p.Pro5Arg)	TELO2 (P5R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2009872	NM_016111.4(TELO2):c.19_20delinsAG (p.Glu7Arg)	TELO2 (E7R)	Indel (missense variant)	not provided	GLikely benign
Select item 1601245	NM_016111.4(TELO2):c.19_20delinsCG (p.Glu7Arg)	TELO2 (E7R)	Indel (missense variant)	not provided	GBenign
Select item 1231598	NM_016111.4(TELO2):c.19G>C (p.Glu7Gln)	TELO2 (E7Q)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1245043	NM_016111.4(TELO2):c.20A>G (p.Glu7Gly)	TELO2 (E7G)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1334826	NM_016111.4(TELO2):c.31_32delinsAA (p.Ala11Asn)	TELO2 (A11N)	Indel (missense variant)	not provided +1 more	GUncertain significance
Select item 720752	NM_016111.4(TELO2):c.31G>A (p.Ala11Thr)	TELO2 (A11T)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 376945	NM_016111.4(TELO2):c.32C>A (p.Ala11Asp)	TELO2 (A11D)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2228639	NM_016111.4(TELO2):c.43del (p.Ala15fs)	TELO2 (A15fs)	Deletion (frameshift variant)	Inborn genetic diseases	GUncertain significance
Select item 3325288	NM_016111.4(TELO2):c.50A>G (p.His17Arg)	TELO2 (H17R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 729753	NM_016111.4(TELO2):c.60G>A (p.Ser20=)	TELO2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 788900	NM_016111.4(TELO2):c.74G>A (p.Gly25Asp)	TELO2 (G25D)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 776961	NM_016111.4(TELO2):c.75C>T (p.Gly25=)	TELO2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2981385	NM_016111.4(TELO2):c.77G>T (p.Gly26Val)	TELO2 (G26V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2720771	NM_016111.4(TELO2):c.96G>A (p.Leu32=)	TELO2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3325282	NM_016111.4(TELO2):c.100T>A (p.Ser34Thr)	TELO2 (S34T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1913904	NM_016111.4(TELO2):c.106A>G (p.Lys36Glu)	TELO2 (K36E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2167966	NM_016111.4(TELO2):c.109C>T (p.Arg37Trp)	TELO2 (R37W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2600594	NM_016111.4(TELO2):c.118G>T (p.Gly40Cys)	TELO2 (G40C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2973991	NM_016111.4(TELO2):c.129G>A (p.Glu43=)	TELO2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2059378	NM_016111.4(TELO2):c.132T>G (p.Pro44=)	TELO2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2878034	NM_016111.4(TELO2):c.168G>A (p.Ser56=)	TELO2	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 392873	NM_016111.4(TELO2):c.194G>C (p.Cys65Ser)	TELO2 (C65S)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1997330	NM_016111.4(TELO2):c.200C>A (p.Ala67Asp)	TELO2 (A67D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2274422	NM_016111.4(TELO2):c.217G>C (p.Ala73Pro)	TELO2 (A73P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1913650	NM_016111.4(TELO2):c.232C>T (p.Leu78=)	TELO2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 737992	NM_016111.4(TELO2):c.238C>A (p.His80Asn)	TELO2 (H80N)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2186019	NM_016111.4(TELO2):c.244C>T (p.Arg82Cys)	TELO2 (R82C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2241307	NM_016111.4(TELO2):c.270C>A (p.Phe90Leu)	TELO2 (F90L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2722117	NM_016111.4(TELO2):c.274C>T (p.Leu92=)	TELO2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1311961	NM_016111.4(TELO2):c.284C>T (p.Pro95Leu)	TELO2 (P95L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2856816	NM_016111.4(TELO2):c.285G>T (p.Pro95=)	TELO2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2106300	NM_016111.4(TELO2):c.304G>A (p.Val102Met)	TELO2 (V102M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2732453	NM_016111.4(TELO2):c.321C>T (p.Ile107=)	TELO2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2047782	NM_016111.4(TELO2):c.324G>T (p.Glu108Asp)	TELO2 (E108D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2622940	NM_016111.4(TELO2):c.329C>T (p.Ala110Val)	TELO2 (A110V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1916081	NM_016111.4(TELO2):c.332C>T (p.Ala111Val)	TELO2 (A111V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2965746	NM_016111.4(TELO2):c.335+15C>T	TELO2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3022828	NM_016111.4(TELO2):c.336-11C>G	TELO2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 723406	NM_016111.4(TELO2):c.336-6C>G	TELO2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1174637	NM_016111.4(TELO2):c.336C>A (p.Gly112=)	TELO2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2444513	NM_016111.4(TELO2):c.340A>C (p.Ser114Arg)	TELO2 (S114R)	Single nucleotide variant (missense variant)	TELO2-related intellectual disability-neurodevelopmental disorder	GUncertain significance
Select item 756904	NM_016111.4(TELO2):c.345C>T (p.Phe115=)	TELO2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3040594	NM_016111.4(TELO2):c.363G>A (p.Ala121=)	TELO2	Single nucleotide variant (synonymous variant)	TELO2-related disorder	GLikely benign
Select item 2421398	NM_016111.4(TELO2):c.364C>T (p.Arg122Trp)	TELO2 (R122W)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2019231	NM_016111.4(TELO2):c.364C>A (p.Arg122=)	TELO2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 727848	NM_016111.4(TELO2):c.382C>T (p.Leu128=)	TELO2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2223198	NM_016111.4(TELO2):c.385C>T (p.Arg129Cys)	TELO2 (R129C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2825065	NM_016111.4(TELO2):c.387C>G (p.Arg129=)	TELO2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2175163	NM_016111.4(TELO2):c.387C>T (p.Arg129=)	TELO2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1006179	NM_016111.4(TELO2):c.390G>C (p.Glu130Asp)	TELO2 (E130D)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 419090	NM_016111.4(TELO2):c.392G>A (p.Gly131Asp)	TELO2 (G131D)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2992088	NM_016111.4(TELO2):c.400G>T (p.Ala134Ser)	TELO2 (A134S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2016668	NM_016111.4(TELO2):c.403G>C (p.Val135Leu)	TELO2 (V135L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2063989	NM_016111.4(TELO2):c.406C>T (p.Leu136=)	TELO2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2783244	NM_016111.4(TELO2):c.418C>T (p.Gln140Ter)	TELO2 (Q140*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2081518	NM_016111.4(TELO2):c.424C>T (p.Arg142Trp)	TELO2 (R142W)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1486652	NM_016111.4(TELO2):c.430C>G (p.Gln144Glu)	TELO2 (Q144E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2187924	NM_016111.4(TELO2):c.431A>G (p.Gln144Arg)	TELO2 (Q144R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1921310	NM_016111.4(TELO2):c.432G>T (p.Gln144His)	TELO2 (Q144H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1878758	NM_016111.4(TELO2):c.436_437inv (p.Gln146Trp)	TELO2 (Q146W)	Inversion (missense variant)	not provided	GUncertain significance
Select item 2035567	NM_016111.4(TELO2):c.437_438delinsGC (p.Gln146Arg)	TELO2 (Q146R)	Indel (missense variant)	not provided	GLikely benign
Select item 1185491	NM_016111.4(TELO2):c.437A>G (p.Gln146Arg)	TELO2 (Q146R)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1714586	NM_016111.4(TELO2):c.439C>T (p.Pro147Ser)	TELO2 (P147S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 740442	NM_016111.4(TELO2):c.441C>T (p.Pro147=)	TELO2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2415881	NM_016111.4(TELO2):c.443_444delinsTT (p.Gly148Val)	TELO2 (G148V)	Indel (missense variant)	not provided	GLikely benign
Select item 2725818	NM_016111.4(TELO2):c.456C>T (p.Leu152=)	TELO2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2103874	NM_016111.4(TELO2):c.460dup (p.Glu154fs)	TELO2 (E154fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2537074	NM_016111.4(TELO2):c.462G>C (p.Glu154Asp)	TELO2 (E154D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3046383	NM_016111.4(TELO2):c.465G>T (p.Thr155=)	TELO2	Single nucleotide variant (synonymous variant)	TELO2-related disorder	GLikely benign
Select item 2071187	NM_016111.4(TELO2):c.465G>A (p.Thr155=)	TELO2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2627255	NM_016111.4(TELO2):c.466C>G (p.Leu156Val)	TELO2 (L156V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360847	NM_016111.4(TELO2):c.478G>A (p.Val160Met)	TELO2 (V160M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2645899	NM_016111.4(TELO2):c.486C>A (p.Ala162=)	TELO2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2585502	NM_016111.4(TELO2):c.490C>T (p.Pro164Ser)	TELO2 (P164S)	Single nucleotide variant (missense variant)	TELO2-related intellectual disability-neurodevelopmental disorder	GUncertain significance
Select item 2048301	NM_016111.4(TELO2):c.508C>T (p.Arg170Cys)	TELO2 (R170C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2880077	NM_016111.4(TELO2):c.510C>T (p.Arg170=)	TELO2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 242385	NM_016111.4(TELO2):c.514C>T (p.Gln172Ter)	TELO2 (Q172*)	Single nucleotide variant (nonsense)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 2182288	NM_016111.4(TELO2):c.515A>T (p.Gln172Leu)	TELO2 (Q172L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 452017	NM_016111.4(TELO2):c.561del (p.Leu188fs)	TELO2 (L188fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 2955440	NM_016111.4(TELO2):c.567C>G (p.Gly189=)	TELO2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2980637	NM_016111.4(TELO2):c.569_570del (p.Glu190fs)	TELO2 (E190fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1908536	NM_016111.4(TELO2):c.570G>A (p.Glu190=)	TELO2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 791371	NM_016111.4(TELO2):c.578T>C (p.Val193Ala)	TELO2 (V193A)	Single nucleotide variant (missense variant)	not provided	GBenign

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