TCF19[gene] - ClinVar

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Items: 35

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	ILRUN-AS1, IP6K3 +2582 more	Copy number gain	See cases	GPathogenic
Select item 3175107	NM_007109.3(TCF19):c.70C>G (p.Pro24Ala)	TCF19 (P24A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3175106	NM_007109.3(TCF19):c.70C>A (p.Pro24Thr)	TCF19 (P24T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232436	NM_007109.3(TCF19):c.128C>A (p.Ala43Asp)	TCF19 (A43D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263284	NM_007109.3(TCF19):c.194G>A (p.Arg65Gln)	TCF19 (R65Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3175102	NM_007109.3(TCF19):c.196G>A (p.Gly66Ser)	TCF19 (G66S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3175103	NM_007109.3(TCF19):c.209G>T (p.Arg70Met)	TCF19 (R70M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376428	NM_007109.3(TCF19):c.278G>A (p.Arg93Lys)	TCF19 (R93K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3175104	NM_007109.3(TCF19):c.280C>A (p.Leu94Met)	TCF19 (L94M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471401	NM_007109.3(TCF19):c.308C>A (p.Thr103Asn)	TCF19 (T103N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1280459	NM_007109.3(TCF19):c.325C>T (p.Pro109Ser)	TCF19 (P109S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2401972	NM_007109.3(TCF19):c.344C>T (p.Ser115Leu)	TCF19 (S115L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3324941	NM_007109.3(TCF19):c.397G>C (p.Ala133Pro)	TCF19 (A133P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611378	NM_007109.3(TCF19):c.433G>A (p.Val145Ile)	TCF19 (V145I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 984404	NM_007109.3(TCF19):c.482G>A (p.Arg161Gln)	TCF19 (R161Q)	Single nucleotide variant (missense variant)	Sensorineural hearing loss disorder	GUncertain significance
Select item 714312	NM_007109.3(TCF19):c.557G>A (p.Arg186Gln)	TCF19 (R186Q)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2472669	NM_007109.3(TCF19):c.583A>C (p.Ser195Arg)	TCF19 (S195R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312405	NM_007109.3(TCF19):c.622C>T (p.Pro208Ser)	TCF19 (P208S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1181041	NM_007109.3(TCF19):c.631A>G (p.Met211Val)	TCF19 (M211V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3175105	NM_007109.3(TCF19):c.662G>A (p.Arg221His)	TCF19 (R221H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211579	NM_007109.3(TCF19):c.754A>G (p.Arg252Gly)	TCF19 (R252G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303600	NM_007109.3(TCF19):c.818G>A (p.Arg273Gln)	TCF19 (R273Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327992	NM_007109.3(TCF19):c.841A>G (p.Met281Val)	TCF19 (M281V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294383	NM_007109.3(TCF19):c.865G>A (p.Gly289Arg)	TCF19 (G289R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455817	NM_007109.3(TCF19):c.943G>A (p.Val315Ile)	TCF19 (V315I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3175108	NM_007109.3(TCF19):c.959C>T (p.Ala320Val)	TCF19 (A320V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3324940	NM_007109.3(TCF19):c.997G>A (p.Asp333Asn)	TCF19 (D333N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2427350	NC_000006.11:g.(?_30695893)_(36953949_?)dup	ABHD16A, AGER +172 more	Duplication	Proteasome-associated autoinflammatory syndrome 1	GUncertain significance
Select item 2424220	NC_000006.11:g.(?_30695893)_(31937492_?)dup	ABHD16A, AIF1 +63 more	Duplication	not provided	GUncertain significance
Select item 974733	NC_000006.11:g.28005012_31683185del	ABCF1, ABHD16A +106 more	Deletion	Megacolon	GLikely pathogenic
Select item 814807	GRCh37/hg19 6p21.33-21.31(chr6:31036397-34088832)x3	ABHD16A, AGER +117 more	Copy number gain	not provided	GLikely pathogenic
Select item 625706	GRCh37/hg19 6p22.1-q14.1(chr6:29455465-81447367)	ERVH-3, ETV7 +427 more	Copy number gain	not provided	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 221339	Single allele	CCHCR1, CDSN +6 more	Complex	Breast ductal adenocarcinoma	GUncertain significance

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Items: 35