2638[HGNC] - ClinVar

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Items: 67

	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 146501	GRCh38/hg38 7q22.1(chr7:99195836-102258175)x1	ACHE, ACTL6B +310 more	Copy number loss	See cases	GPathogenic
Select item 146325	GRCh38/hg38 7q22.1(chr7:99195836-100348063)x3	AP4M1, ARPC1A +125 more	Copy number gain	See cases	GLikely benign
Select item 60280	GRCh38/hg38 7q22.1(chr7:99219420-100902269)x1	ACHE, ACTL6B +228 more	Copy number loss	See cases	GPathogenic
Select item 151564	GRCh38/hg38 7q22.1(chr7:99643456-99913142)x3	CYP3A4, CYP3A43 +11 more	Copy number gain	See cases	GLikely benign
Select item 3079629	NM_000777.5(CYP3A5):c.1433C>T (p.Thr478Met)	CYP3A5, ZSCAN25 (T365M +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 776245	NM_000777.5(CYP3A5):c.1414-3T>C	CYP3A5, ZSCAN25	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2309343	NM_000777.5(CYP3A5):c.1397C>A (p.Pro466His)	CYP3A5, ZSCAN25 (P466H +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3079628	NM_000777.5(CYP3A5):c.1331T>C (p.Met444Thr)	CYP3A5, ZSCAN25 (M331T +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3079627	NM_000777.5(CYP3A5):c.1243C>T (p.Arg415Cys)	CYP3A5, ZSCAN25 (R415C +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 754063	NM_000777.5(CYP3A5):c.1206C>T (p.His402=)	CYP3A5, ZSCAN25	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 3040536	NM_000777.5(CYP3A5):c.1191A>C (p.Pro397=)	CYP3A5, ZSCAN25	Single nucleotide variant (synonymous variant +2 more)	CYP3A5-related disorder	GLikely benign
Select item 2515468	NM_000777.5(CYP3A5):c.1174T>C (p.Ser392Pro)	CYP3A5, ZSCAN25 (S392P +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 585032	NM_000777.5(CYP3A5):c.1165C>T (p.Pro389Ser)	CYP3A5, ZSCAN25 (P389S +2 more)	Single nucleotide variant (missense variant +2 more)	Essential hypertension	Gnot provided
Select item 2252621	NM_000777.5(CYP3A5):c.1142T>C (p.Val381Ala)	CYP3A5, ZSCAN25 (V371A +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3079626	NM_000777.5(CYP3A5):c.1040A>G (p.Tyr347Cys)	CYP3A5, ZSCAN25 (Y337C +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3038280	NM_000777.5(CYP3A5):c.1035dup (p.Thr346fs)	CYP3A5, ZSCAN25 (T233fs +2 more)	Duplication (frameshift variant +2 more)	CYP3A5-related disorder	GLikely benign
Select item 2486392	NM_000777.5(CYP3A5):c.1031C>A (p.Pro344Gln)	CYP3A5, ZSCAN25 (P231Q +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2607353	NM_000777.5(CYP3A5):c.1006G>T (p.Asp336Tyr)	CYP3A5, ZSCAN25 (D336Y +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2224675	NM_000777.5(CYP3A5):c.926C>A (p.Thr309Asn)	CYP3A5, ZSCAN25 (T196N +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2489200	NM_000777.5(CYP3A5):c.895T>G (p.Ser299Ala)	CYP3A5, ZSCAN25 (S299A +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3047630	NM_000777.5(CYP3A5):c.799-127G>A	CYP3A5, ZSCAN25	Single nucleotide variant (non-coding transcript variant +1 more)	CYP3A5-related disorder	GLikely benign
Select item 2233783	NM_000777.5(CYP3A5):c.779G>A (p.Arg260His)	CYP3A5, ZSCAN25 (R260H +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2493300	NM_000777.5(CYP3A5):c.765A>T (p.Arg255Ser)	CYP3A5, ZSCAN25 (R142S +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 3051135	NM_000777.5(CYP3A5):c.692_693del (p.Pro231fs)	CYP3A5, ZSCAN25 (P118fs +2 more)	Deletion (frameshift variant +2 more)	CYP3A5-related disorder	GLikely benign
Select item 3039123	NM_000777.5(CYP3A5):c.624G>A (p.Lys208=)	CYP3A5, ZSCAN25	Single nucleotide variant (synonymous variant +2 more)	CYP3A5-related disorder	GLikely benign
Select item 2307560	NM_000777.5(CYP3A5):c.575A>G (p.Asn192Ser)	CYP3A5, ZSCAN25 (N192S +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2403288	NM_000777.5(CYP3A5):c.505C>T (p.Pro169Ser)	CYP3A5, ZSCAN25 (P159S +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3079630	NM_000777.5(CYP3A5):c.454T>C (p.Tyr152His)	CYP3A5, ZSCAN25 (Y142H +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2278242	NM_000777.5(CYP3A5):c.359T>C (p.Leu120Ser)	CYP3A5, ZSCAN25 (L110S +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 187819	NM_000777.5(CYP3A5):c.319-1630C>T	CYP3A5, ZSCAN25	Single nucleotide variant (3 prime UTR variant +1 more)	appendicular lean mass relative to body height	Gassociation
Select item 3034613	NM_000777.5(CYP3A5):c.299C>A (p.Ser100Tyr)	CYP3A5, ZSCAN25 (S100Y +1 more)	Single nucleotide variant (missense variant +2 more)	CYP3A5-related disorder	GLikely benign
Select item 2243323	NM_000777.5(CYP3A5):c.277G>T (p.Val93Leu)	CYP3A5, ZSCAN25 (V93L +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2634597	NM_000777.5(CYP3A5):c.219-235A>G	CYP3A5, ZSCAN25	Single nucleotide variant (5 prime UTR variant +2 more)	CYP3A5-related disorder	GUncertain significance
Select item 226021	NM_000777.5(CYP3A5):c.219-237=	CYP3A5, ZSCAN25	Single nucleotide variant (intron variant +1 more)	not provided	GBenign
Select item 5066	NM_000777.5(CYP3A5):c.219-237A>G	CYP3A5, ZSCAN25	Single nucleotide variant (intron variant +1 more)	Hypertension, salt-sensitive essential, susceptibility to +2 more	Gassociation; drug response; risk factor
Select item 2319949	NM_000777.5(CYP3A5):c.157T>C (p.Tyr53His)	CYP3A5, ZSCAN25 (Y53H +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2479577	NM_000777.5(CYP3A5):c.138G>T (p.Leu46Phe)	CYP3A5, ZSCAN25 (L46F +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 2657724	NM_000777.5(CYP3A5):c.92dup (p.Leu32fs)	CYP3A5, ZSCAN25 (L22fs +1 more)	Duplication (frameshift variant +2 more)	not provided	GLikely benign
Select item 2657725	NM_000777.5(CYP3A5):c.88C>T (p.His30Tyr)	CYP3A5, ZSCAN25 (H20Y +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
Select item 3044339	NM_000777.5(CYP3A5):c.72-111C>T	CYP3A5, ZSCAN25	Single nucleotide variant (5 prime UTR variant +3 more)	CYP3A5-related disorder	GBenign
Select item 3034635	NM_000777.5(CYP3A5):c.72-152T>C	CYP3A5, ZSCAN25	Single nucleotide variant (5 prime UTR variant +2 more)	CYP3A5-related disorder	GLikely benign
Select item 2523971	NM_000777.5(CYP3A5):c.23C>T (p.Ala8Val)	CYP3A5, ZSCAN25 (A8V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3055839	NM_000777.5(CYP3A5):c.-74C>T	CYP3A5, LOC110599592 +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	CYP3A5-related disorder	GLikely benign
Select item 3041648	NM_000777.5(CYP3A5):c.-86G>A	CYP3A5, LOC110599592 +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	CYP3A5-related disorder	GLikely benign
Select item 3245893	NC_000007.13:g.(?_94024344)_(100860555_?)del	ACHE, ACTL6B +106 more	Deletion	not provided	GPathogenic
Select item 3062972	GRCh37/hg19 7q22.1(chr7:98396469-102108193)x1	ACHE, ACTL6B +93 more	Copy number loss	not specified	GLikely pathogenic
Select item 2685256	GRCh37/hg19 7q22.1(chr7:99263437-100105272)x1	ZNF3, ZSCAN21 +32 more	Copy number loss	not provided	GUncertain significance
Select item 2685254	GRCh37/hg19 7q22.1(chr7:99114000-101878272)x1	CYP3A4, CYP3A43 +73 more	Copy number loss	not provided	GPathogenic
Select item 2424700	NC_000007.13:g.(?_98507659)_(100860555_?)dup	ACHE, ACTL6B +79 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 1373858	NC_000007.13:g.(?_98983338)_(100860555_?)del	ACHE, ACTL6B +75 more	Deletion	not provided	GUncertain significance
Select item 1340058	GRCh37/hg19 7q22.1(chr7:98755291-99886571)x3	AP4M1, ARPC1A +39 more	Copy number gain	not provided	GUncertain significance
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 687317	GRCh37/hg19 7q22.1(chr7:98758955-99368262)x1	ARPC1A, ARPC1B +16 more	Copy number loss	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 563415	GRCh37/hg19 7q22.1(chr7:98847725-102472176)x1	CYP3A43, GJC3 +99 more	Copy number loss	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: 67