16807[HGNC] - ClinVar

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Items: 53

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CUL1, CUX1 +4737 more	Copy number loss	See cases	GPathogenic
Select item 147547	GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3	LOC123956257, LOC123956258 +2213 more	Copy number gain	See cases	GPathogenic
Select item 59713	GRCh38/hg38 7q21.3-22.1(chr7:98288474-101259804)x3	ACHE, ACTL6B +300 more	Copy number gain	See cases	GPathogenic
Select item 2579262	GRCh38/hg38 7q22.1(chr7:98454022-100723798)x1	ACTL6B, AGFG2 +230 more	Copy number loss	Multiple congenital anomalies/dysmorphic syndrome	GPathogenic
Select item 3166769	NM_181349.3(SMURF1):c.2125G>A (p.Glu709Lys)	LOC101927550, SMURF1 (E709K +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3166768	NM_181349.3(SMURF1):c.2105G>A (p.Arg702Gln)	LOC101927550, SMURF1 (R728Q +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2318188	NM_181349.3(SMURF1):c.2029G>A (p.Gly677Arg)	LOC101927550, SMURF1 (G674R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291655	NM_181349.3(SMURF1):c.2017A>G (p.Thr673Ala)	LOC101927550, SMURF1 (T673A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 712665	NM_181349.3(SMURF1):c.2011+9C>T	LOC101927550, SMURF1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 2604258	NM_181349.3(SMURF1):c.1925C>T (p.Thr642Met)	LOC101927550, SMURF1 (T642M +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2598925	NM_181349.3(SMURF1):c.1757A>G (p.Asn586Ser)	SMURF1 (N612S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292620	NM_181349.3(SMURF1):c.1687C>T (p.Arg563Trp)	SMURF1 (R589W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286853	NM_181349.3(SMURF1):c.1676A>C (p.Lys559Thr)	SMURF1 (K559T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166766	NM_181349.3(SMURF1):c.1624C>T (p.His542Tyr)	SMURF1 (H568Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325186	NM_181349.3(SMURF1):c.1441A>T (p.Asn481Tyr)	SMURF1 (N507Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3337604	NM_181349.3(SMURF1):c.1432C>T (p.His478Tyr)	SMURF1 (H478Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2657717	NM_181349.3(SMURF1):c.1353G>A (p.Pro451=)	SMURF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2620187	NM_181349.3(SMURF1):c.1325A>C (p.Asp442Ala)	SMURF1 (D468A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2657718	NM_181349.3(SMURF1):c.1128A>G (p.Glu376=)	SMURF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3166765	NM_181349.3(SMURF1):c.1102C>T (p.Pro368Ser)	SMURF1 (P368S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312103	NM_181349.3(SMURF1):c.1084G>A (p.Glu362Lys)	SMURF1 (E362K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166764	NM_181349.3(SMURF1):c.976C>T (p.Pro326Ser)	SMURF1 (P352S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377730	NM_181349.3(SMURF1):c.888A>G (p.Ile296Met)	SMURF1 (I322M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352817	NM_181349.3(SMURF1):c.885G>T (p.Arg295Ser)	SMURF1 (R295S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2614286	NM_181349.3(SMURF1):c.806+408G>A	SMURF1 (E284K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1251940	NM_181349.3(SMURF1):c.721G>A (p.Glu241Lys)	SMURF1 (E241K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166772	NM_181349.3(SMURF1):c.691C>T (p.His231Tyr)	SMURF1 (H231Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361834	NM_181349.3(SMURF1):c.647A>T (p.Asp216Val)	SMURF1 (D216V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2221290	NM_181349.3(SMURF1):c.605G>A (p.Ser202Asn)	SMURF1 (S202N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166771	NM_181349.3(SMURF1):c.499G>A (p.Gly167Arg)	SMURF1 (G167R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1294535	NM_181349.3(SMURF1):c.498C>G (p.Ser166=)	SMURF1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2374415	NM_181349.3(SMURF1):c.497C>T (p.Ser166Phe)	SMURF1 (S166F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2610942	NM_181349.3(SMURF1):c.445G>A (p.Val149Met)	SMURF1 (V149M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321065	NM_181349.3(SMURF1):c.414G>C (p.Gln138His)	SMURF1 (Q138H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166770	NM_181349.3(SMURF1):c.382G>A (p.Ala128Thr)	SMURF1 (A128T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166767	NM_181349.3(SMURF1):c.191A>G (p.Gln64Arg)	SMURF1 (Q64R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596165	NM_181349.3(SMURF1):c.124G>A (p.Val42Met)	SMURF1 (V42M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3245893	NC_000007.13:g.(?_94024344)_(100860555_?)del	MCM7, SPACDR +106 more	Deletion	not provided	GPathogenic
Select item 3062993	GRCh37/hg19 7q22.1(chr7:98400618-98684060)x3	SMURF1, TMEM130 +1 more	Copy number gain	not specified	GUncertain significance
Select item 3062972	GRCh37/hg19 7q22.1(chr7:98396469-102108193)x1	ACHE, ACTL6B +93 more	Copy number loss	not specified	GLikely pathogenic
Select item 2424700	NC_000007.13:g.(?_98507659)_(100860555_?)dup	ACHE, ACTL6B +79 more	Duplication	not provided	GUncertain significance
Select item 2423885	NC_000007.13:g.(?_98478774)_(98779708_?)dup	KPNA7, SMURF1 +1 more	Duplication	not provided	GUncertain significance
Select item 1708459	GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1	AASS, ABCA13 +896 more	Copy number loss	See cases	GUncertain significance
Select item 1703560	Single allele	CACNA2D1, CADPS2 +896 more	Complex	Ring chromosome 7	GPathogenic
Select item 1047880	GRCh37/hg19 7q21.12-22.1(chr7:87477185-100333327)	ATP5MF-PTCD1, AZGP1 +127 more	Copy number gain	Isolated Pierre-Robin syndrome +1 more	GPathogenic
Select item 687427	GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3	PRSS1, PRSS37 +896 more	Copy number gain	not provided	GPathogenic
Select item 687152	GRCh37/hg19 7q22.1(chr7:98373794-98676268)x3	SMURF1, TMEM130 +1 more	Copy number gain	not provided	GUncertain significance
Select item 563422	GRCh37/hg19 7q22.1-36.3(chr7:98693388-159119707)x3	AASS, ABCB8 +436 more	Copy number gain	not provided	GPathogenic
Select item 545583	GRCh37/hg19 7q21.2-22.1(chr7:92445452-99686985)x1	CYP3A4, TAC1 +65 more	Copy number loss	Split hand-foot malformation 1	GPathogenic
Select item 442834	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3	AVL9, AZGP1 +896 more	Copy number gain	See cases	GPathogenic
Select item 442833	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)	MCM7, MDFIC +896 more	Copy number gain	See cases	GPathogenic
Select item 402244	TMEM106B-BRAF fusion	AASS, ABCA13 +678 more	Deletion	Pleomorphic xanthoastrocytoma	GPathogenic
Select item 242972	NC_000007.13:g.(20954043_21001537)_(114528369_114556605)inv	ARMC10, ASB4 +504 more	Inversion	Childhood apraxia of speech	GPathogenic

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Items: 53