CRTC1[gene] - ClinVar

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Items: 39

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144406	GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	LOC130064390, LOC130064391 +2135 more	Copy number gain	See cases	GPathogenic
Select item 59114	GRCh38/hg38 19p13.12-q11(chr19:13974677-27839676)x3	LOC130063908, LOC130063909 +695 more	Copy number gain	See cases	GPathogenic
Select item 147522	GRCh38/hg38 19p13.12-12(chr19:15133594-24193591)x3	LOC130064107, LOC130064108 +574 more	Copy number gain	See cases	GPathogenic
Select item 57042	GRCh38/hg38 19p13.11-q13.11(chr19:17176767-34924150)x3	ABHD8, ANKLE1 +625 more	Copy number gain	See cases	GPathogenic
Select item 751822	NM_015321.3(CRTC1):c.144C>T (p.Ser48=)	CRTC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2304325	NM_015321.3(CRTC1):c.243+1113C>T	CRTC1 (A92V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3077660	NM_015321.3(CRTC1):c.321G>C (p.Glu107Asp)	CRTC1 (E107D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275973	NM_015321.3(CRTC1):c.385G>A (p.Asp129Asn)	CRTC1 (D129N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 753883	NM_015321.3(CRTC1):c.423C>T (p.Pro141=)	CRTC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3077661	NM_015321.3(CRTC1):c.425C>T (p.Ala142Val)	CRTC1 (A142V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077662	NM_015321.3(CRTC1):c.485C>T (p.Pro162Leu)	CRTC1 (P162L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 788814	NM_015321.3(CRTC1):c.539-10A>G	CRTC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2217750	NM_015321.3(CRTC1):c.601A>G (p.Lys201Glu)	CRTC1 (K201E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 748565	NM_015321.3(CRTC1):c.675G>A (p.Pro225=)	CRTC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 788467	NM_015321.3(CRTC1):c.846G>A (p.Ala282=)	CRTC1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2380355	NM_015321.3(CRTC1):c.880G>A (p.Gly294Ser)	CRTC1 (G294S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374378	NM_015321.3(CRTC1):c.919C>T (p.Arg307Cys)	CRTC1 (R307C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077663	NM_015321.3(CRTC1):c.949A>G (p.Ser317Gly)	CRTC1 (S333G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544534	NM_015321.3(CRTC1):c.977C>T (p.Ser326Leu)	CRTC1 (S326L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605951	NM_015321.3(CRTC1):c.1126G>A (p.Ala376Thr)	CRTC1 (A376T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077655	NM_015321.3(CRTC1):c.1172G>A (p.Arg391His)	CRTC1 (R391H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405403	NM_015321.3(CRTC1):c.1177C>T (p.Pro393Ser)	CRTC1 (P393S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252525	NM_015321.3(CRTC1):c.1181C>T (p.Pro394Leu)	CRTC1 (P394L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2613902	NM_015321.3(CRTC1):c.1271C>A (p.Ser424Tyr)	CRTC1 (S424Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589933	NM_015321.3(CRTC1):c.1277C>A (p.Pro426Gln)	CRTC1 (P426Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077656	NM_015321.3(CRTC1):c.1490A>G (p.Gln497Arg)	CRTC1 (Q497R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487948	NM_015321.3(CRTC1):c.1528A>G (p.Met510Val)	CRTC1 (M526V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208637	NM_015321.3(CRTC1):c.1589C>T (p.Ser530Leu)	CRTC1 (S530L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292704	NM_015321.3(CRTC1):c.1594G>A (p.Ala532Thr)	CRTC1 (A532T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077658	NM_015321.3(CRTC1):c.1613C>T (p.Thr538Met)	CRTC1 (T538M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 708132	NM_015321.3(CRTC1):c.1740T>G (p.Ser580=)	CRTC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2367389	NM_015321.3(CRTC1):c.1753G>T (p.Gly585Cys)	CRTC1 (G585C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2300692	NM_015321.3(CRTC1):c.1792G>A (p.Asp598Asn)	CRTC1 (D614N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077659	NM_015321.3(CRTC1):c.1834A>C (p.Met612Leu)	CRTC1 (M612L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277118	NM_015321.3(CRTC1):c.1867C>T (p.Pro623Ser)	CRTC1 (P639S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2425279	NC_000019.9:g.(?_17927663)_(19312528_?)dup	ARMC6, ARRDC2 +44 more	Duplication	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	GUncertain significance
Select item 980194	GRCh37/hg19 19p13.12-12(chr19:14286624-20956753)x3	BST2, NWD1 +158 more	Copy number gain	not provided	GPathogenic
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	A1BG, ABCA7 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	LILRA4, LILRA5 +1364 more	Copy number gain	See cases	GPathogenic

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Items: 39