C1864871[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[su - ClinVar

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Items: 73

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 186330	NM_000051.4(ATM):c.8977C>T (p.Arg2993Ter)	C11orf65, ATM (R2993*)	Single nucleotide variant (nonsense +1 more)	Ataxia-telangiectasia syndrome +5 more	GPathogenic/Likely pathogenic
Select item 377995	NM_015443.4(KANSL1):c.3306G>A (p.Pro1102=)	KANSL1	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 1441586	NM_015443.4(KANSL1):c.3238C>T (p.Pro1080Ser)	KANSL1 (P1079S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1506575	NM_015443.4(KANSL1):c.3230A>T (p.Glu1077Val)	KANSL1 (E1076V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 205756	NM_015443.4(KANSL1):c.3170A>G (p.Gln1057Arg)	KANSL1 (Q1057R +1 more)	Single nucleotide variant (missense variant)	Koolen-de Vries syndrome +1 more	GBenign/Likely benign
Select item 137972	NM_015443.4(KANSL1):c.3091-18C>G	KANSL1	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 205800	NM_015443.4(KANSL1):c.3056G>A (p.Arg1019His)	KANSL1 (R1019H +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 392273	NM_015443.4(KANSL1):c.3053C>T (p.Thr1018Ile)	KANSL1 (T1018I +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 323764	NM_015443.4(KANSL1):c.3029C>T (p.Pro1010Leu)	KANSL1, MAPT (P1010L +1 more)	Single nucleotide variant (missense variant)	Koolen-de Vries syndrome +3 more	GBenign
Select item 385906	NM_015443.4(KANSL1):c.2985G>A (p.Pro995=)	KANSL1	Single nucleotide variant (synonymous variant)	Koolen-de Vries syndrome +1 more	GLikely benign
Select item 1514548	NM_015443.4(KANSL1):c.2861G>A (p.Arg954Gln)	KANSL1 (R954Q +1 more)	Single nucleotide variant (missense variant)	Koolen-de Vries syndrome	GConflicting classifications of pathogenicity
Select item 1398299	NM_015443.4(KANSL1):c.2860C>T (p.Arg954Trp)	KANSL1 (R954W +1 more)	Single nucleotide variant (missense variant)	Koolen-de Vries syndrome	GConflicting classifications of pathogenicity
Select item 1063583	NM_015443.4(KANSL1):c.2752G>T (p.Ala918Ser)	KANSL1 (A917S +1 more)	Single nucleotide variant (missense variant)	Koolen-de Vries syndrome	GUncertain significance
Select item 137970	NM_015443.4(KANSL1):c.2698G>A (p.Gly900Arg)	KANSL1 (G900R +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 1415155	NM_015443.4(KANSL1):c.2687A>G (p.Gln896Arg)	KANSL1 (Q896R +1 more)	Single nucleotide variant (missense variant)	Koolen-de Vries syndrome	GUncertain significance
Select item 205745	NM_015443.4(KANSL1):c.2414T>C (p.Met805Thr)	KANSL1 (M805T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 648725	NM_015443.4(KANSL1):c.2406C>A (p.His802Gln)	KANSL1 (H802Q)	Single nucleotide variant (missense variant)	Koolen-de Vries syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1005636	NM_015443.4(KANSL1):c.2269G>A (p.Val757Met)	KANSL1 (V757M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 862657	NM_015443.4(KANSL1):c.2264G>A (p.Gly755Glu)	KANSL1 (G755E)	Single nucleotide variant (missense variant)	Koolen-de Vries syndrome	GUncertain significance
Select item 1548712	NM_015443.4(KANSL1):c.2262G>A (p.Val754=)	KANSL1	Single nucleotide variant (synonymous variant)	Koolen-de Vries syndrome	GLikely benign
Select item 323773	NM_015443.4(KANSL1):c.2256C>T (p.Asp752=)	KANSL1	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 238624	NM_015443.4(KANSL1):c.2230G>C (p.Asp744His)	KANSL1 (D744H)	Single nucleotide variant (missense variant)	Koolen-de Vries syndrome +1 more	GBenign/Likely benign
Select item 1659721	NM_015443.4(KANSL1):c.2130C>T (p.Pro710=)	KANSL1	Single nucleotide variant (synonymous variant)	Koolen-de Vries syndrome	GLikely benign
Select item 137966	NM_015443.4(KANSL1):c.2109A>G (p.Leu703=)	KANSL1	Single nucleotide variant (synonymous variant)	Koolen-de Vries syndrome +2 more	GBenign/Likely benign
Select item 1443309	NM_015443.4(KANSL1):c.2014C>G (p.Pro672Ala)	KANSL1 (P672A)	Single nucleotide variant (missense variant)	Koolen-de Vries syndrome	GUncertain significance
Select item 1426028	NM_015443.4(KANSL1):c.1945C>G (p.His649Asp)	KANSL1 (H649D)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 137965	NM_015443.4(KANSL1):c.1938C>T (p.Pro646=)	KANSL1	Single nucleotide variant (synonymous variant)	Koolen-de Vries syndrome +2 more	GBenign/Likely benign
Select item 521751	NM_015443.4(KANSL1):c.1859A>C (p.Asn620Thr)	KANSL1 (N620T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 379459	NM_015443.4(KANSL1):c.1855C>T (p.Arg619Trp)	KANSL1 (R619W)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign/Likely benign
Select item 948858	NM_015443.4(KANSL1):c.1848+3C>T	KANSL1	Single nucleotide variant (intron variant)	Koolen-de Vries syndrome	GUncertain significance
Select item 748130	NM_015443.4(KANSL1):c.1839T>C (p.Leu613=)	KANSL1	Single nucleotide variant (synonymous variant)	Koolen-de Vries syndrome	GLikely benign
Select item 1613728	NM_015443.4(KANSL1):c.1830C>T (p.Ile610=)	KANSL1	Single nucleotide variant (synonymous variant)	Koolen-de Vries syndrome	GLikely benign
Select item 597666	NM_015443.4(KANSL1):c.1783C>G (p.Pro595Ala)	KANSL1 (P595A)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 468398	NM_015443.4(KANSL1):c.1689C>T (p.Asp563=)	KANSL1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 447607	NM_015443.4(KANSL1):c.1653-10C>G	KANSL1	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 468395	NM_015443.4(KANSL1):c.1616G>A (p.Cys539Tyr)	KANSL1 (C539Y)	Single nucleotide variant (missense variant)	Koolen-de Vries syndrome	GUncertain significance
Select item 390020	NM_015443.4(KANSL1):c.1527T>G (p.Asp509Glu)	KANSL1 (D509E)	Single nucleotide variant (missense variant)	Koolen-de Vries syndrome +1 more	GLikely benign
Select item 1439744	NM_015443.4(KANSL1):c.1391G>A (p.Arg464His)	KANSL1 (R464H)	Single nucleotide variant (missense variant)	Koolen-de Vries syndrome	GUncertain significance
Select item 385685	NM_015443.4(KANSL1):c.1290-20C>T	KANSL1	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 386734	NM_015443.4(KANSL1):c.1289+9A>C	KANSL1	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 1348750	NM_015443.4(KANSL1):c.1261G>A (p.Ala421Thr)	KANSL1 (A421T)	Single nucleotide variant (missense variant)	Koolen-de Vries syndrome	GUncertain significance
Select item 205781	NM_015443.4(KANSL1):c.1116A>G (p.Lys372=)	KANSL1	Single nucleotide variant (synonymous variant)	Koolen-de Vries syndrome +1 more	GBenign/Likely benign
Select item 1592482	NM_015443.4(KANSL1):c.1110T>C (p.Phe370=)	KANSL1	Single nucleotide variant (synonymous variant)	Koolen-de Vries syndrome	GLikely benign
Select item 389489	NM_015443.4(KANSL1):c.1059C>A (p.Ala353=)	KANSL1	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 951545	NM_015443.4(KANSL1):c.992A>G (p.Lys331Arg)	KANSL1 (K331R)	Single nucleotide variant (missense variant)	Koolen-de Vries syndrome	GUncertain significance
Select item 238625	NM_015443.4(KANSL1):c.963G>A (p.Leu321=)	KANSL1	Single nucleotide variant (synonymous variant)	Koolen-de Vries syndrome	GLikely benign
Select item 1476587	NM_015443.4(KANSL1):c.954A>T (p.Gln318His)	KANSL1 (Q318H)	Single nucleotide variant (missense variant)	Koolen-de Vries syndrome	GUncertain significance
Select item 759124	NM_015443.4(KANSL1):c.843C>T (p.Asp281=)	KANSL1	Single nucleotide variant (synonymous variant)	Koolen-de Vries syndrome	GLikely benign
Select item 205813	NM_015443.4(KANSL1):c.805C>T (p.Pro269Ser)	KANSL1 (P269S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1100294	NM_015443.4(KANSL1):c.773_774inv (p.Leu258Ser)	KANSL1 (L258S)	Inversion (missense variant)	Koolen-de Vries syndrome	GLikely benign
Select item 137974	NM_015443.4(KANSL1):c.773T>C (p.Leu258Ser)	KANSL1 (L258S)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 1168974	NM_015443.4(KANSL1):c.729A>G (p.Gln243=)	KANSL1	Single nucleotide variant (synonymous variant)	Koolen-de Vries syndrome	GBenign/Likely benign
Select item 205774	NM_015443.4(KANSL1):c.688A>G (p.Asn230Asp)	KANSL1 (N230D)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 205773	NM_015443.4(KANSL1):c.680G>A (p.Ser227Asn)	KANSL1 (S227N)	Single nucleotide variant (missense variant)	Koolen-de Vries syndrome +2 more	GBenign/Likely benign
Select item 205772	NM_015443.4(KANSL1):c.635A>G (p.His212Arg)	KANSL1 (H212R)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 937095	NM_015443.4(KANSL1):c.631C>G (p.Pro211Ala)	KANSL1 (P211A)	Single nucleotide variant (missense variant)	Koolen-de Vries syndrome	GUncertain significance
Select item 205806	NM_015443.4(KANSL1):c.620A>G (p.Asn207Ser)	KANSL1 (N207S)	Single nucleotide variant (missense variant)	Koolen-de Vries syndrome +1 more	GBenign/Likely benign
Select item 205771	NM_015443.4(KANSL1):c.608G>T (p.Gly203Val)	KANSL1 (G203V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1106575	NM_015443.4(KANSL1):c.607G>T (p.Gly203Trp)	KANSL1 (G203W)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 323794	NM_015443.4(KANSL1):c.607G>C (p.Gly203Arg)	KANSL1 (G203R)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 288484	NM_015443.4(KANSL1):c.607G>A (p.Gly203Arg)	KANSL1 (G203R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1063654	NM_015443.4(KANSL1):c.577A>G (p.Met193Val)	KANSL1 (M193V)	Single nucleotide variant (missense variant)	Koolen-de Vries syndrome	GUncertain significance
Select item 205770	NM_015443.4(KANSL1):c.571G>T (p.Gly191Cys)	KANSL1 (G191C)	Single nucleotide variant (missense variant)	Koolen-de Vries syndrome +3 more	GBenign/Likely benign
Select item 516124	NM_015443.4(KANSL1):c.525C>T (p.Ser175=)	KANSL1	Single nucleotide variant (synonymous variant)	Koolen-de Vries syndrome +1 more	GLikely benign
Select item 1386778	NM_015443.4(KANSL1):c.496A>G (p.Thr166Ala)	KANSL1 (T166A)	Single nucleotide variant (missense variant)	Koolen-de Vries syndrome	GUncertain significance
Select item 697585	NM_015443.4(KANSL1):c.468G>C (p.Gly156=)	KANSL1	Single nucleotide variant (synonymous variant)	Koolen-de Vries syndrome	GLikely benign
Select item 944232	NM_015443.4(KANSL1):c.455C>T (p.Ala152Val)	KANSL1 (A152V)	Single nucleotide variant (missense variant)	Koolen-de Vries syndrome	GUncertain significance
Select item 845446	NM_015443.4(KANSL1):c.442G>A (p.Ala148Thr)	KANSL1 (A148T)	Single nucleotide variant (missense variant)	Koolen-de Vries syndrome +1 more	GConflicting classifications of pathogenicity
Select item 408956	NM_015443.4(KANSL1):c.316A>G (p.Thr106Ala)	KANSL1 (T106A)	Single nucleotide variant (missense variant)	Koolen-de Vries syndrome	GUncertain significance
Select item 846545	NM_015443.4(KANSL1):c.301G>A (p.Val101Ile)	KANSL1 (V101I)	Single nucleotide variant (missense variant)	Koolen-de Vries syndrome	GUncertain significance
Select item 468405	NM_015443.4(KANSL1):c.297A>G (p.Gln99=)	KANSL1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 323798	NM_015443.4(KANSL1):c.286T>C (p.Leu96=)	KANSL1	Single nucleotide variant (synonymous variant)	Koolen-de Vries syndrome +1 more	GBenign/Likely benign
Select item 383614	NM_015443.4(KANSL1):c.-89-17T>C	KANSL1	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign

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Items: 73