11767[HGNC] - ClinVar

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Items: 47

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 152605	GRCh38/hg38 16p12.2-11.2(chr16:23752047-31943755)x3	LOC130058732, LOC130058733 +504 more	Copy number gain	See cases	GPathogenic
Select item 144329	GRCh38/hg38 16p11.2-11.1(chr16:30691912-36160463)x3	AHSP, ARMC5 +136 more	Copy number gain	See cases	GPathogenic
Select item 2307034	NM_001042454.3(TGFB1I1):c.79C>A (p.Arg27Ser)	TGFB1I1 (R27S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226246	NM_001042454.3(TGFB1I1):c.80G>A (p.Arg27His)	TGFB1I1 (R10H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601742	NM_001042454.3(TGFB1I1):c.91C>A (p.Pro31Thr)	TGFB1I1 (P14T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298088	NM_001042454.3(TGFB1I1):c.183C>G (p.Ser61Arg)	TGFB1I1 (S44R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287416	NM_001042454.3(TGFB1I1):c.185C>T (p.Thr62Met)	TGFB1I1 (T62M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604890	NM_001042454.3(TGFB1I1):c.265G>A (p.Gly89Arg)	TGFB1I1 (G72R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401974	NM_001042454.3(TGFB1I1):c.268C>G (p.Leu90Val)	TGFB1I1 (L73V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3176643	NM_001042454.3(TGFB1I1):c.358G>A (p.Val120Met)	TGFB1I1 (V120M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3176644	NM_001042454.3(TGFB1I1):c.374A>G (p.Gln125Arg)	TGFB1I1 (Q125R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542815	NM_001042454.3(TGFB1I1):c.406C>G (p.Pro136Ala)	TGFB1I1 (P119A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478385	NM_001042454.3(TGFB1I1):c.410G>A (p.Ser137Asn)	TGFB1I1 (S120N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478386	NM_001042454.3(TGFB1I1):c.411C>A (p.Ser137Arg)	TGFB1I1 (S120R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2237170	NM_001042454.3(TGFB1I1):c.419C>G (p.Ser140Cys)	TGFB1I1 (S123C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272872	NM_001042454.3(TGFB1I1):c.439C>G (p.Pro147Ala)	TGFB1I1 (P130A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345182	NM_001042454.3(TGFB1I1):c.526G>C (p.Ala176Pro)	TGFB1I1 (A159P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3176645	NM_001042454.3(TGFB1I1):c.812G>A (p.Gly271Glu)	TGFB1I1 (G254E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3176646	NM_001042454.3(TGFB1I1):c.849C>G (p.Phe283Leu)	TGFB1I1 (F283L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2486449	NM_001042454.3(TGFB1I1):c.851C>G (p.Ser284Trp)	TGFB1I1 (S284W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3176648	NM_001042454.3(TGFB1I1):c.921C>G (p.His307Gln)	TGFB1I1 (H307Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3176649	NM_001042454.3(TGFB1I1):c.940G>T (p.Val314Phe)	TGFB1I1 (V297F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313781	NM_001042454.3(TGFB1I1):c.1001G>A (p.Cys334Tyr)	TGFB1I1 (C317Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210411	NM_001042454.3(TGFB1I1):c.1014C>G (p.Phe338Leu)	TGFB1I1 (F338L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3176640	NM_001042454.3(TGFB1I1):c.1079C>G (p.Ala360Gly)	TGFB1I1 (A343G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3176641	NM_001042454.3(TGFB1I1):c.1099C>T (p.Pro367Ser)	TGFB1I1 (P350S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523854	NM_001042454.3(TGFB1I1):c.1102G>A (p.Asp368Asn)	TGFB1I1 (D368N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476855	NM_001042454.3(TGFB1I1):c.1114T>G (p.Cys372Gly)	TGFB1I1 (C372G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2613447	NM_001042454.3(TGFB1I1):c.1157A>T (p.Glu386Val)	TGFB1I1 (E369V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555021	NM_001042454.3(TGFB1I1):c.1157A>C (p.Glu386Ala)	TGFB1I1 (E369A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474424	NM_001042454.3(TGFB1I1):c.1165G>A (p.Gly389Ser)	TGFB1I1 (G372S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362063	NM_001042454.3(TGFB1I1):c.1199G>C (p.Arg400Pro)	TGFB1I1 (R383P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276214	NM_001042454.3(TGFB1I1):c.1202G>A (p.Arg401His)	TGFB1I1 (R384H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527825	NM_001042454.3(TGFB1I1):c.1351T>C (p.Tyr451His)	TGFB1I1 (Y434H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3176642	NM_001042454.3(TGFB1I1):c.1380C>A (p.Phe460Leu)	TGFB1I1 (F460L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063423	GRCh37/hg19 16p11.2(chr16:31451337-31491435)x1	ARMC5, TGFB1I1 +1 more	Copy number loss	not specified	GUncertain significance
Select item 979443	GRCh37/hg19 16p11.2(chr16:30350747-31905898)x3	STX4, DCTPP1 +52 more	Copy number gain	not provided	GUncertain significance
Select item 813717	GRCh37/hg19 16p13.3-11.2(chr16:5805001-34230001)	ABAT, ABCC1 +250 more	Copy number gain	Microcephaly	GPathogenic
Select item 598742	Single allele	TGFB1I1, TRIM72 +38 more	Deletion	Branched-chain keto acid dehydrogenase kinase deficiency	GUncertain significance
Select item 443126	GRCh37/hg19 16p13.2-q24.3(chr16:9273328-89548493)x3	AARS1, ABCC1 +591 more	Copy number gain	See cases	GUncertain significance
Select item 443121	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3	ZC3H7A, ZCCHC14 +811 more	Copy number gain	See cases	GPathogenic
Select item 443120	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)	AARS1, ABAT +811 more	Copy number gain	See cases	GPathogenic
Select item 395502	GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3	DPEP2, DPEP3 +811 more	Copy number gain	See cases	GPathogenic
Select item 395300	GRCh37/hg19 16p11.2(chr16:28826162-29043901)x1	AHSP, ALDOA +99 more	Copy number loss	See cases	GLikely pathogenic
Select item 375693	maternal UPD(16p)	ALG1, BICDL2 +388 more	Complex	Hemimegalencephaly	GPathogenic
Select item 221519	GRCh37/hg19 16p11.2(chr16:31154186-31926800)x3	AHSP, ARMC5 +15 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance
Select item 221391	GRCh37/hg19 16p13.3-11.2(chr16:1279324-31926800)x3	ABAT, ABCA3 +384 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance

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Items: 47