ClinVar for Gene (Select 6950) - ClinVar

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Links from Gene

Items: 58

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3325046	NM_030752.3(TCP1):c.809T>C (p.Ile270Thr)	TCP1 (I115T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3325045	NM_030752.3(TCP1):c.398A>G (p.Asn133Ser)	TCP1 (N133S)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 3325044	NM_030752.3(TCP1):c.769C>T (p.Pro257Ser)	TCP1 (P102S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3325043	NM_030752.3(TCP1):c.183C>G (p.Ile61Met)	TCP1 (I61M)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3325042	NM_030752.3(TCP1):c.112C>G (p.Pro38Ala)	TCP1 (P38A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3325041	NM_030752.3(TCP1):c.1639G>A (p.Asp547Asn)	ACAT2, TCP1 (D392N +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3325040	NM_030752.3(TCP1):c.826C>G (p.Gln276Glu)	TCP1 (Q121E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3175332	NM_030752.3(TCP1):c.68T>C (p.Met23Thr)	TCP1 (M23T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3175330	NM_030752.3(TCP1):c.51C>G (p.Ile17Met)	TCP1 (I17M)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3175329	NM_030752.3(TCP1):c.365G>A (p.Arg122Gln)	TCP1 (R122Q)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3175328	NM_030752.3(TCP1):c.1075G>C (p.Asp359His)	TCP1 (D359H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3148927	GRCh37/hg19 6q25.2-27(chr6:152853218-170914297)x1	ACAT2, AFDN +79 more	Copy number loss	See cases	GPathogenic
Select item 2601631	NM_030752.3(TCP1):c.1049A>T (p.Glu350Val)	TCP1 (E195V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594489	NM_030752.3(TCP1):c.178A>G (p.Thr60Ala)	TCP1 (T60A)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2593603	NM_030752.3(TCP1):c.250A>G (p.Lys84Glu)	TCP1 (K84E)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2588402	NM_030752.3(TCP1):c.688G>A (p.Val230Ile)	TCP1 (V230I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2571271	GRCh37/hg19 6q25.3-27(chr6:159006336-170713678)x3	ACAT2, AFDN +54 more	Copy number gain	not provided	GUncertain significance
Select item 2546224	NM_030752.3(TCP1):c.1109G>C (p.Arg370Pro)	TCP1 (R215P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542736	NM_030752.3(TCP1):c.918G>A (p.Met306Ile)	TCP1 (M151I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538371	NM_030752.3(TCP1):c.1641T>A (p.Asp547Glu)	ACAT2, TCP1 (D547E +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2536856	NM_005891.3(ACAT2):c.1126A>G (p.Ser376Gly)	ACAT2, TCP1 (S376G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2528703	NM_030752.3(TCP1):c.1436A>G (p.Glu479Gly)	TCP1 (E479G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521495	NM_030752.3(TCP1):c.388C>T (p.Arg130Cys)	TCP1 (R130C)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2494299	NM_030752.3(TCP1):c.257T>C (p.Val86Ala)	TCP1 (V86A)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2491863	NM_005891.3(ACAT2):c.1105A>G (p.Thr369Ala)	ACAT2, TCP1 (T369A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2474241	NM_030752.3(TCP1):c.1450A>C (p.Lys484Gln)	TCP1 (K329Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2427078	NC_000006.11:g.(?_158532398)_(162868359_?)del	LPA, MAP3K4 +26 more	Deletion	not provided	GPathogenic
Select item 2408321	NM_030752.3(TCP1):c.952C>T (p.Arg318Cys)	TCP1 (R163C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402782	NM_030752.3(TCP1):c.731C>A (p.Thr244Lys)	TCP1 (T244K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396401	NM_030752.3(TCP1):c.1112C>T (p.Thr371Met)	TCP1 (T216M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389763	NM_030752.3(TCP1):c.511A>G (p.Met171Val)	TCP1 (M171V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377858	NM_005891.3(ACAT2):c.1042G>T (p.Ala348Ser)	ACAT2, TCP1 (A348S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2340561	NM_005891.3(ACAT2):c.1118T>C (p.Met373Thr)	ACAT2, TCP1 (M402T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2325307	NM_030752.3(TCP1):c.1096A>C (p.Asn366His)	TCP1 (N211H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293930	NM_030752.3(TCP1):c.1462C>T (p.Leu488Phe)	TCP1 (L333F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286404	NM_030752.3(TCP1):c.1275C>G (p.Asn425Lys)	TCP1 (N270K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280609	NM_005891.3(ACAT2):c.1070C>G (p.Ala357Gly)	ACAT2, TCP1 (A357G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1708184	GRCh37/hg19 6q25.3-27(chr6:157318401-165233548)x1	MAS1, MRPL18 +33 more	Copy number loss	See cases	GPathogenic
Select item 1703663	GRCh37/hg19 6q25.3-27(chr6:159121459-170919482)	ACAT2, AFDN +55 more	Copy number loss	Hydrocephalus	GPathogenic
Select item 1527308	GRCh37/hg19 6q25.2-26(chr6:153207930-164322346)	ACAT2, AGPAT4 +44 more	Copy number loss	not specified	GPathogenic
Select item 979580	GRCh37/hg19 6q25.3(chr6:159998877-160413982)x3	PNLDC1, ACAT2 +6 more	Copy number gain	not provided	GUncertain significance
Select item 726396	NM_005891.3(ACAT2):c.1024-5G>A	ACAT2, TCP1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 687358	GRCh37/hg19 6q25.3(chr6:157262571-160992289)x3	ACAT2, AIRN +27 more	Copy number gain	not provided	GUncertain significance
Select item 686074	GRCh37/hg19 6q25.3(chr6:160025206-160271483)x1	ACAT2, MRPL18 +4 more	Copy number loss	not provided	GUncertain significance
Select item 563245	GRCh37/hg19 6q25.3-27(chr6:159844762-170919482)x3	ACAT2, AFDN +49 more	Copy number gain	not provided	GPathogenic
Select item 561258	46,XX,der(6)(q25.1,q28)dn.seq[GRCh37/hg19]der(6)(6pter->6q25.2(+)(154768571)::q25.2(+)(154778901),q25.2(+)154778992::q25.2(-)(154774048),q25.2(-)(154768571)::q25.2(-)(154768571),q25.1(-)(~151443183-151443483))dn	FNDC1, FRMD1 +86 more	Complex	Coffin-Siris syndrome 1	GPathogenic
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	AARS2, ABCC10 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	RING1, RIOK1 +1028 more	Copy number gain	See cases	GPathogenic
Select item 394997	GRCh37/hg19 6q25.1-27(chr6:151214792-170892243)x3	ACAT2, AFDN +87 more	Copy number gain	See cases	GPathogenic
Select item 155551	GRCh38/hg38 6q25.3-26(chr6:158585724-160899783)x3	ACAT2, AIRN +115 more	Copy number gain	See cases	GUncertain significance
Select item 155377	GRCh38/hg38 6q23.2-27(chr6:133537271-165875545)x3	LOC129997450, LOC129997451 +1002 more	Copy number gain	See cases	GPathogenic
Select item 154527	GRCh38/hg38 6q25.2-27(chr6:152376338-170612001)x3	LOC101929460, LOC102724087 +572 more	Copy number gain	See cases	GPathogenic
Select item 153525	GRCh38/hg38 6q25.2-27(chr6:152793402-170610394)x1	LOC129997640, LOC129997641 +564 more	Copy number loss	See cases	GPathogenic
Select item 148765	GRCh38/hg38 6q25.3-26(chr6:155378049-163133499)x1	SOD2, SOD2-OT1 +270 more	Copy number loss	See cases	GPathogenic
Select item 148306	GRCh38/hg38 6q25.2-27(chr6:154539655-170714507)x1	IGF2R, KIF25 +540 more	Copy number loss	See cases	GPathogenic
Select item 58455	GRCh38/hg38 6q25.3-27(chr6:159454639-170612001)x1	LOC126859858, LOC126859859 +340 more	Copy number loss	See cases	GPathogenic
Select item 58453	GRCh38/hg38 6q25.2-27(chr6:154118058-170602152)x1	ACAT2, AFDN +549 more	Copy number loss	See cases	GPathogenic
Select item 57020	GRCh38/hg38 6q24.1-27(chr6:141132990-169339571)x3	LOC129389719, LOC129389720 +866 more	Copy number gain	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 58