ClinVar for Gene (Select 3268) - ClinVar

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Links from Gene

Items: 57

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3275879	NM_006076.5(AGFG2):c.1436C>A (p.Pro479His)	AGFG2 (P479H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3275869	NM_006076.5(AGFG2):c.1426A>T (p.Thr476Ser)	AGFG2 (T476S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3275861	NM_006076.5(AGFG2):c.97G>A (p.Val33Met)	AGFG2, LOC129998951 (V33M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3275858	NM_006076.5(AGFG2):c.607C>T (p.Arg203Trp)	AGFG2 (R203W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3275848	NM_006076.5(AGFG2):c.1051G>T (p.Gly351Cys)	AGFG2 (G351C)	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 3095520	NM_006076.5(AGFG2):c.973G>A (p.Val325Met)	AGFG2 (V325M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095508	NM_006076.5(AGFG2):c.828C>G (p.Ser276Arg)	AGFG2 (S276R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095493	NM_006076.5(AGFG2):c.443C>T (p.Pro148Leu)	AGFG2 (P148L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095487	NM_006076.5(AGFG2):c.382C>G (p.Pro128Ala)	AGFG2 (P128A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095485	NM_006076.5(AGFG2):c.269C>T (p.Thr90Ile)	AGFG2 (T90I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095481	NM_006076.5(AGFG2):c.152C>T (p.Ala51Val)	AGFG2, LOC129998951 (A51V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095473	NM_006076.5(AGFG2):c.1259C>T (p.Pro420Leu)	AGFG2 (P420L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095466	NM_006076.5(AGFG2):c.1228A>C (p.Thr410Pro)	AGFG2 (T410P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095461	NM_006076.5(AGFG2):c.1166C>T (p.Ala389Val)	AGFG2 (A389V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095458	NM_006076.5(AGFG2):c.1084G>C (p.Gly362Arg)	AGFG2 (G362R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095445	NM_006076.5(AGFG2):c.1051G>A (p.Gly351Ser)	AGFG2 (G351S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3062972	GRCh37/hg19 7q22.1(chr7:98396469-102108193)x1	ACHE, ACTL6B +93 more	Copy number loss	not specified	GLikely pathogenic
Select item 2685254	GRCh37/hg19 7q22.1(chr7:99114000-101878272)x1	CYP3A4, CYP3A43 +73 more	Copy number loss	not provided	GPathogenic
Select item 2607993	NM_006076.5(AGFG2):c.1069A>G (p.Thr357Ala)	AGFG2 (T357A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2522071	NM_006076.5(AGFG2):c.758C>T (p.Thr253Ile)	AGFG2 (T253I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518681	NM_006076.5(AGFG2):c.302C>A (p.Ser101Tyr)	AGFG2 (S101Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483744	NM_006076.5(AGFG2):c.1240G>A (p.Ala414Thr)	AGFG2 (A414T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481531	NM_006076.5(AGFG2):c.887A>T (p.Gln296Leu)	AGFG2 (Q296L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456960	NM_006076.5(AGFG2):c.661G>C (p.Ala221Pro)	AGFG2 (A221P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454388	NM_006076.5(AGFG2):c.1057G>A (p.Gly353Ser)	AGFG2 (G353S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2424700	NC_000007.13:g.(?_98507659)_(100860555_?)dup	ACHE, ACTL6B +79 more	Duplication	not provided	GUncertain significance
Select item 2359143	NM_006076.5(AGFG2):c.893C>T (p.Thr298Ile)	AGFG2 (T298I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346084	NM_006076.5(AGFG2):c.1315G>A (p.Asp439Asn)	AGFG2 (D439N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342756	NM_006076.5(AGFG2):c.1043C>T (p.Thr348Met)	AGFG2 (T348M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317173	NM_006076.5(AGFG2):c.949G>A (p.Val317Met)	AGFG2 (V317M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2289562	NM_006076.5(AGFG2):c.611C>T (p.Thr204Ile)	AGFG2 (T204I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288962	NM_006076.5(AGFG2):c.1332G>T (p.Lys444Asn)	AGFG2 (K444N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232346	NM_006076.5(AGFG2):c.439C>T (p.Pro147Ser)	AGFG2 (P147S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2231179	NM_006076.5(AGFG2):c.721C>A (p.Pro241Thr)	AGFG2 (P241T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205622	NM_006076.5(AGFG2):c.1037C>G (p.Ser346Cys)	AGFG2 (S346C)	Single nucleotide variant (missense variant)	not specified	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 1527379	GRCh37/hg19 7q22.1-31.1(chr7:99417471-111586308)	ACHE, ACTL6B +123 more	Copy number loss	not specified	GPathogenic
Select item 1373858	NC_000007.13:g.(?_98983338)_(100860555_?)del	ACHE, ACTL6B +75 more	Deletion	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 929826	GRCh37/hg19 7q22.1(chr7:99593346-102470275)x1	ACHE, ACTL6B +77 more	Copy number loss	See cases	GLikely pathogenic
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 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 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
Select item 149050	GRCh38/hg38 7q22.1(chr7:99932610-102473188)x3	ACHE, ACTL6B +283 more	Copy number gain	See cases	GUncertain significance
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 146501	GRCh38/hg38 7q22.1(chr7:99195836-102258175)x1	ACHE, ACTL6B +310 more	Copy number loss	See cases	GPathogenic
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 60281	GRCh38/hg38 7q22.1(chr7:100419914-102482826)x1	ACHE, ACTL6B +207 more	Copy number loss	See cases	GPathogenic
Select item 60280	GRCh38/hg38 7q22.1(chr7:99219420-100902269)x1	ACHE, ACTL6B +228 more	Copy number loss	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

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Links from Gene

Items: 57