BAIAP2L1[gene] - ClinVar

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Items: 52

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	LOC121740684, LOC121740685 +4735 more	Copy number loss	See cases	GPathogenic
Select item 147547	GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3	LOC111674474, LOC111674475 +2212 more	Copy number gain	See cases	GPathogenic
Select item 59713	GRCh38/hg38 7q21.3-22.1(chr7:98288474-101259804)x3	UFSP1, VGF +299 more	Copy number gain	See cases	GPathogenic
Select item 2688662	NM_018842.5(BAIAP2L1):c.1442C>T (p.Ala481Val)	BAIAP2L1, BRI3 (A481V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2204890	NM_018842.5(BAIAP2L1):c.1373C>T (p.Thr458Met)	BAIAP2L1, BRI3 (T458M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132869	NM_018842.5(BAIAP2L1):c.1364C>T (p.Ser455Leu)	BAIAP2L1, BRI3 (S455L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393943	NM_018842.5(BAIAP2L1):c.1350C>A (p.Asp450Glu)	BAIAP2L1, BRI3 (D450E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379276	NM_018842.5(BAIAP2L1):c.1348G>A (p.Asp450Asn)	BAIAP2L1, BRI3 (D450N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2657698	NM_018842.5(BAIAP2L1):c.1347C>T (p.Ala449=)	BAIAP2L1, BRI3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 157064	NC_000007.14:g.98304289_98528307dup	BAIAP2L1, BRI3 +4 more	Duplication	Normal pregnancy	Gnot provided
Select item 2245104	NM_018842.5(BAIAP2L1):c.1307C>A (p.Pro436Gln)	BAIAP2L1, BRI3 (P436Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524405	NM_018842.5(BAIAP2L1):c.1282G>A (p.Glu428Lys)	BRI3, BAIAP2L1 (E428K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132868	NM_018842.5(BAIAP2L1):c.1270G>A (p.Val424Met)	BAIAP2L1, BRI3 (V424M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264904	NM_018842.5(BAIAP2L1):c.1226C>A (p.Thr409Asn)	BAIAP2L1, BRI3 (T409N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2229564	NM_018842.5(BAIAP2L1):c.1190C>T (p.Thr397Met)	BAIAP2L1, BRI3 (T397M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531327	NM_018842.5(BAIAP2L1):c.1157C>G (p.Ser386Cys)	BAIAP2L1, BRI3 (S386C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2227259	NM_018842.5(BAIAP2L1):c.1152C>A (p.Asp384Glu)	BAIAP2L1, BRI3 (D384E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132867	NM_018842.5(BAIAP2L1):c.1150G>A (p.Asp384Asn)	BAIAP2L1, BRI3 (D384N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466155	NM_018842.5(BAIAP2L1):c.1068G>T (p.Lys356Asn)	BAIAP2L1, BRI3 (K356N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299842	NM_018842.5(BAIAP2L1):c.998C>T (p.Ala333Val)	BAIAP2L1, BRI3 (A333V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297654	NM_018842.5(BAIAP2L1):c.986C>T (p.Ser329Leu)	BAIAP2L1, BRI3 (S329L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311651	NM_018842.5(BAIAP2L1):c.856C>T (p.Pro286Ser)	BAIAP2L1, BRI3 (P286S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284056	NM_018842.5(BAIAP2L1):c.755C>T (p.Thr252Ile)	BAIAP2L1, BRI3 (T252I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250746	NM_018842.5(BAIAP2L1):c.743C>A (p.Thr248Asn)	BAIAP2L1, BRI3 (T248N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253463	NM_018842.5(BAIAP2L1):c.730G>A (p.Glu244Lys)	BAIAP2L1, BRI3 (E244K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132871	NM_018842.5(BAIAP2L1):c.714A>C (p.Lys238Asn)	BAIAP2L1, BRI3 (K238N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462646	NM_018842.5(BAIAP2L1):c.671G>A (p.Arg224Gln)	BAIAP2L1, BRI3 (R224Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215838	NM_018842.5(BAIAP2L1):c.623A>G (p.His208Arg)	BAIAP2L1, BRI3 (H208R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483730	NM_018842.5(BAIAP2L1):c.581G>C (p.Cys194Ser)	BAIAP2L1, BRI3 (C194S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520320	NM_018842.5(BAIAP2L1):c.515G>C (p.Ser172Thr)	BAIAP2L1, BRI3 (S172T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355774	NM_018842.5(BAIAP2L1):c.509G>A (p.Arg170His)	BAIAP2L1, BRI3 (R170H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512997	NM_018842.5(BAIAP2L1):c.490G>A (p.Val164Met)	BAIAP2L1, BRI3 (V164M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2776133	NM_018842.5(BAIAP2L1):c.487-6_487-3del	BAIAP2L1, BRI3	Deletion (intron variant)	not provided	GBenign
Select item 402406	NM_018842.5(BAIAP2L1):c.487-10_487-9insA	BAIAP2L1, BRI3	Insertion (intron variant)	not specified	GBenign
Select item 2776134	NM_018842.5(BAIAP2L1):c.487-14_487-13insATTATTATTA	BAIAP2L1, BRI3	Insertion (intron variant)	not provided	GLikely benign
Select item 402407	NM_018842.5(BAIAP2L1):c.487-14_487-13insATTA	BAIAP2L1, BRI3	Insertion (intron variant)	not specified	GBenign
Select item 3132870	NM_018842.5(BAIAP2L1):c.452G>A (p.Arg151Gln)	BAIAP2L1, BRI3 (R151Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590498	NM_018842.5(BAIAP2L1):c.227T>G (p.Ile76Arg)	BAIAP2L1, BRI3 (I76R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252575	NM_018842.5(BAIAP2L1):c.179A>T (p.Glu60Val)	BAIAP2L1 (E60V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240489	NM_018842.5(BAIAP2L1):c.27C>G (p.Asn9Lys)	BAIAP2L1, LOC129998851 (N9K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2227040	NM_018842.5(BAIAP2L1):c.21G>C (p.Glu7Asp)	BAIAP2L1, LOC129998851 (E7D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1809338	GRCh37/hg19 7q21.3-22.1(chr7:97786282-98313434)x3	BAIAP2L1, BHLHA15 +4 more	Copy number gain	not provided	GUncertain significance
Select item 1808653	GRCh37/hg19 7q21.2-22.1(chr7:92721627-98311537)x1	ASB4, ASNS +34 more	Copy number loss	not provided	GPathogenic
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 545583	GRCh37/hg19 7q21.2-22.1(chr7:92445452-99686985)x1	ARPC1A, ARPC1B +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: 52