ClinVar for Gene (Select 6869) - ClinVar

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Links from Gene

Items: 44

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3173348	NM_001058.4(TACR1):c.978C>G (p.Ile326Met)	TACR1 (I326M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173347	NM_001058.4(TACR1):c.68A>G (p.Asn23Ser)	LOC105374811, TACR1 (N23S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173346	NM_001058.4(TACR1):c.604G>C (p.Val202Leu)	LOC129934156, TACR1 (V202L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173345	NM_001058.4(TACR1):c.1060C>A (p.Leu354Met)	TACR1 (L354M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062659	GRCh37/hg19 2p13.3-12(chr2:71076472-76368354)x1	ACTG2, ALMS1 +60 more	Copy number loss	not specified	GLikely pathogenic
Select item 3059844	NM_001058.4(TACR1):c.1134G>A (p.Ser378=)	TACR1	Single nucleotide variant (synonymous variant)	TACR1-related disorder	GBenign
Select item 3058592	NM_001058.4(TACR1):c.771C>T (p.Phe257=)	TACR1	Single nucleotide variant (synonymous variant)	TACR1-related disorder	GLikely benign
Select item 2617418	NM_001058.4(TACR1):c.1049A>C (p.Lys350Thr)	TACR1 (K350T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2613853	NM_001058.4(TACR1):c.118A>G (p.Thr40Ala)	LOC105374811, TACR1 (T40A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2613675	NM_001058.4(TACR1):c.1105C>A (p.Pro369Thr)	TACR1 (P369T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555879	NM_001058.4(TACR1):c.1019G>A (p.Arg340Gln)	TACR1 (R340Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509091	NM_001058.4(TACR1):c.703C>T (p.Arg235Cys)	TACR1 (R235C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509039	NM_001058.4(TACR1):c.563C>T (p.Pro188Leu)	TACR1 (P188L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2498869	GRCh37/hg19 2p13.1-12(chr2:73716761-75347894)x1	ACTG2, ALMS1 +35 more	Copy number loss	not provided	GUncertain significance
Select item 2477219	NM_001058.4(TACR1):c.1057C>T (p.Arg353Cys)	TACR1 (R353C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378325	NM_001058.4(TACR1):c.719T>C (p.Val240Ala)	TACR1 (V240A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342024	NM_001058.4(TACR1):c.304C>G (p.Leu102Val)	LOC105374811, TACR1 (L102V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340824	NM_001058.4(TACR1):c.512C>G (p.Thr171Arg)	TACR1 (T171R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334955	NM_001058.4(TACR1):c.581A>G (p.Lys194Arg)	TACR1 (K194R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314028	NM_001058.4(TACR1):c.451A>C (p.Ile151Leu)	TACR1 (I151L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309380	NM_001058.4(TACR1):c.933G>T (p.Arg311Ser)	TACR1 (R311S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252456	NM_001058.4(TACR1):c.540C>G (p.Cys180Trp)	TACR1 (C180W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1809337	GRCh37/hg19 2p12(chr2:75042935-75308974)x1	HK2, POLE4 +1 more	Copy number loss	not provided	GUncertain significance
Select item 1708190	GRCh37/hg19 2p25.1-q13(chr2:11504318-111365996)x1	ACTG2, ACTR1B +529 more	Copy number loss	See cases	GPathogenic
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 1526829	GRCh37/hg19 2p12(chr2:75265687-77573171)	EVA1A, GCFC2 +3 more	Copy number gain	not specified	GUncertain significance
Select item 980975	GRCh37/hg19 2p13.1-12(chr2:74780969-75444113)x3	DOK1, HK2 +5 more	Copy number gain	not provided	GUncertain significance
Select item 980974	GRCh37/hg19 2p13.1-12(chr2:74825161-75308974)x3	HK2, M1AP +3 more	Copy number gain	not provided	GLikely benign
Select item 757579	NM_001058.4(TACR1):c.564G>A (p.Pro188=)	TACR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 689210	GRCh37/hg19 2p13.1-12(chr2:74895347-75829809)x3	EVA1A, HK2 +3 more	Copy number gain	not provided	GUncertain significance
Select item 689089	GRCh37/hg19 2p13.1-12(chr2:74928349-77095981)x3	EVA1A, GCFC2 +5 more	Copy number gain	not provided	GUncertain significance
Select item 685860	GRCh37/hg19 2p13.1-12(chr2:74972080-83043893)x1	CTNNA2, EVA1A +11 more	Copy number loss	not provided	GPathogenic
Select item 562678	GRCh37/hg19 2p13.1-11.2(chr2:74527522-89125488)x1	ATOH8, AUP1 +78 more	Copy number loss	not provided	GPathogenic
Select item 562623	GRCh37/hg19 2p12(chr2:75185910-76183197)x3	TACR1, MRPL19 +3 more	Copy number gain	not provided	GUncertain significance
Select item 562545	GRCh37/hg19 2p12(chr2:75132410-75348185)x3	POLE4, TACR1	Copy number gain	not provided	GUncertain significance
Select item 560065	Single allele	AAK1, ACTG2 +127 more	Duplication	not provided	GPathogenic
Select item 524189	Single allele	ACMSD, C2orf27A +486 more	Deletion	not provided	GLikely pathogenic
Select item 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	RGPD4, RGPD5 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	IL1F10, IL1R1 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442633	GRCh37/hg19 2p13.1-11.2(chr2:74365484-89129064)x1	SFTPB, SH2D6 +81 more	Copy number loss	See cases	GPathogenic
Select item 155389	GRCh38/hg38 2p13.1-12(chr2:74375779-75517520)x1	AUP1, C2orf81 +86 more	Copy number loss	See cases	GLikely pathogenic
Select item 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	LOC126806252, LOC126806253 +2457 more	Copy number gain	See cases	GBenign
Select item 147468	GRCh38/hg38 2p13.1-12(chr2:74432069-75181627)x3	AUP1, CCDC142 +66 more	Copy number gain	See cases	GUncertain significance
Select item 146814	GRCh38/hg38 2p16.1-11.2(chr2:58279519-83586962)x3	AAK1, ACTG2 +768 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 44