703[HGNC] - ClinVar

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Items: 41

	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 2368743	NM_006409.4(ARPC1A):c.115G>A (p.Gly39Arg)	ARPC1A (G25R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402571	NM_006409.4(ARPC1A):c.161A>G (p.His54Arg)	ARPC1A (H54R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232295	NM_006409.4(ARPC1A):c.199A>G (p.Ile67Val)	ARPC1A (I53V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360219	NM_006409.4(ARPC1A):c.308A>C (p.Lys103Thr)	ARPC1A (K103T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293584	NM_006409.4(ARPC1A):c.461A>G (p.Asn154Ser)	ARPC1A (N154S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2561076	NM_006409.4(ARPC1A):c.581T>C (p.Leu194Pro)	ARPC1A (L194P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370231	NM_006409.4(ARPC1A):c.599G>T (p.Gly200Val)	ARPC1A (G200V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594516	NM_006409.4(ARPC1A):c.643A>G (p.Ser215Gly)	ARPC1A (S215G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295374	NM_006409.4(ARPC1A):c.682G>A (p.Val228Met)	ARPC1A (V228M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2493528	NM_006409.4(ARPC1A):c.751A>T (p.Ser251Cys)	ARPC1A (S237C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3315915	NM_006409.4(ARPC1A):c.830G>A (p.Arg277His)	ARPC1A (R277H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404411	NM_006409.4(ARPC1A):c.914A>G (p.Asn305Ser)	ARPC1A (N305S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129744	NM_006409.4(ARPC1A):c.1022G>A (p.Arg341His)	ARPC1A (R327H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207853	NM_006409.4(ARPC1A):c.1054A>C (p.Met352Leu)	ARPC1A (M352L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377301	NM_006409.4(ARPC1A):c.1060A>G (p.Ile354Val)	ARPC1A (I354V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129745	NM_006409.4(ARPC1A):c.1102C>T (p.Arg368Trp)	ARPC1A (R354W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3315924	NM_006409.4(ARPC1A):c.1103G>A (p.Arg368Gln)	ARPC1A (R354Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 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 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 685071	GRCh37/hg19 7q22.1(chr7:98879212-98954815)x1	ARPC1A	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: 41