BCAM[gene] and "single gene"[properties] - ClinVar

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Items: 72

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2559142	NM_005581.5(BCAM):c.49C>G (p.Leu17Val)	BCAM (L17V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133207	NM_005581.5(BCAM):c.92C>G (p.Ala31Gly)	BCAM (A31G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3040212	NM_005581.5(BCAM):c.116C>T (p.Pro39Leu)	BCAM (P39L)	Single nucleotide variant (missense variant)	BCAM-related disorder	GLikely benign
Select item 438	NM_005581.4(BCAM):c.230G>A (p.Arg77His)	BCAM (R77H)	Single nucleotide variant (missense variant)	LUTHERAN BLOOD GROUP POLYMORPHISM Lu(a)/Lu(b)	GBenign
Select item 2360459	NM_005581.5(BCAM):c.287G>A (p.Arg96Gln)	BCAM (R96Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213575	NM_005581.5(BCAM):c.325C>T (p.Arg109Cys)	BCAM (R109C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 443	NM_005581.5(BCAM):c.361C>T (p.Arg121Ter)	BCAM (R121*)	Single nucleotide variant (nonsense)	BLOOD GROUP--LUTHERAN NULL	GPathogenic
Select item 3133202	NM_005581.5(BCAM):c.370G>A (p.Val124Met)	BCAM (V124M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2650085	NM_005581.5(BCAM):c.426C>T (p.Asn142=)	BCAM	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2596221	NM_005581.5(BCAM):c.427G>A (p.Val143Met)	BCAM (V143M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3051787	NM_005581.5(BCAM):c.433+8T>A	BCAM	Single nucleotide variant (intron variant)	BCAM-related disorder	GLikely benign
Select item 2235649	NM_005581.5(BCAM):c.439C>T (p.Pro147Ser)	BCAM (P147S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209414	NM_005581.5(BCAM):c.557A>G (p.Tyr186Cys)	BCAM (Y186C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3060945	NM_005581.5(BCAM):c.611T>A (p.Met204Lys)	BCAM (M204K)	Single nucleotide variant (missense variant)	BCAM-related disorder	GLikely benign
Select item 2616876	NM_005581.5(BCAM):c.619C>G (p.Arg207Gly)	BCAM (R207G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2608321	NM_005581.5(BCAM):c.622A>G (p.Thr208Ala)	BCAM (T208A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2650086	NM_005581.5(BCAM):c.666C>G (p.Leu222=)	BCAM	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 440	NM_005581.5(BCAM):c.691C>T (p.Arg231Ter)	BCAM (R231*)	Single nucleotide variant (nonsense)	BLOOD GROUP--LUTHERAN NULL	GPathogenic
Select item 3133204	NM_005581.5(BCAM):c.692G>C (p.Arg231Pro)	BCAM (R231P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3056456	NM_005581.5(BCAM):c.711C>T (p.Cys237=)	BCAM	Single nucleotide variant (synonymous variant)	BCAM-related disorder	GBenign
Select item 442	NM_005581.5(BCAM):c.711C>A (p.Cys237Ter)	BCAM (C237*)	Single nucleotide variant (nonsense)	BLOOD GROUP--LUTHERAN NULL	GPathogenic
Select item 3056244	NM_005581.5(BCAM):c.714C>T (p.Ala238=)	BCAM	Single nucleotide variant (synonymous variant)	BCAM-related disorder	GBenign
Select item 740467	NM_005581.5(BCAM):c.732C>G (p.Pro244=)	BCAM	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2491371	NM_005581.5(BCAM):c.734A>T (p.Glu245Val)	BCAM (E245V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133205	NM_005581.5(BCAM):c.752T>A (p.Leu251Gln)	BCAM (L251Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467484	NM_005581.5(BCAM):c.764C>T (p.Thr255Ile)	BCAM (T255I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3260559	NM_005581.5(BCAM):c.827C>G (p.Thr276Ser)	BCAM (T276S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133206	NM_005581.5(BCAM):c.829C>T (p.Pro277Ser)	BCAM (P277S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 777501	NM_005581.5(BCAM):c.845G>A (p.Arg282His)	BCAM (R282H)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3260561	NM_005581.5(BCAM):c.857C>T (p.Thr286Ile)	BCAM (T286I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 708620	NM_005581.5(BCAM):c.922-9G>A	BCAM	Single nucleotide variant (intron variant)	BCAM-related disorder +1 more	GBenign/Likely benign
Select item 2612528	NM_005581.5(BCAM):c.955G>A (p.Glu319Lys)	BCAM (E319K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601398	NM_005581.5(BCAM):c.986G>A (p.Arg329Gln)	BCAM (R329Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380127	NM_005581.5(BCAM):c.995G>A (p.Ser332Asn)	BCAM (S332N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3033455	NM_005581.5(BCAM):c.996C>T (p.Ser332=)	BCAM	Single nucleotide variant (synonymous variant)	BCAM-related disorder	GLikely benign
Select item 2207242	NM_005581.5(BCAM):c.1030G>A (p.Ala344Thr)	BCAM (A344T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319562	NM_005581.5(BCAM):c.1070G>A (p.Arg357His)	BCAM (R357H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2362051	NM_005581.5(BCAM):c.1090C>G (p.Leu364Val)	BCAM (L364V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474137	NM_005581.5(BCAM):c.1122A>T (p.Leu374Phe)	BCAM (L374F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 713797	NM_005581.5(BCAM):c.1141G>A (p.Val381Ile)	BCAM (V381I)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3133198	NM_005581.5(BCAM):c.1156G>A (p.Val386Met)	BCAM (V386M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2568855	NM_005581.5(BCAM):c.1213G>A (p.Asp405Asn)	BCAM (D405N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 780574	NM_005581.5(BCAM):c.1227G>T (p.Leu409=)	BCAM	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2599364	NM_005581.5(BCAM):c.1256A>G (p.Asn419Ser)	BCAM (N419S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292833	NM_005581.5(BCAM):c.1267G>A (p.Val423Ile)	BCAM (V423I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2553202	NM_005581.5(BCAM):c.1280C>T (p.Ser427Phe)	BCAM (S427F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243701	NM_005581.5(BCAM):c.1310C>A (p.Thr437Asn)	BCAM (T437N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3034205	NM_005581.5(BCAM):c.1351A>C (p.Lys451Gln)	BCAM (K451Q)	Single nucleotide variant (missense variant)	BCAM-related disorder	GLikely benign
Select item 2361496	NM_005581.5(BCAM):c.1385G>A (p.Ser462Asn)	BCAM (S462N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311843	NM_005581.5(BCAM):c.1401C>G (p.Asp467Glu)	BCAM (D467E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464768	NM_005581.5(BCAM):c.1409C>T (p.Thr470Ile)	BCAM (T470I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133199	NM_005581.5(BCAM):c.1429G>A (p.Gly477Ser)	BCAM (G477S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483148	NM_005581.5(BCAM):c.1458C>A (p.Ser486Arg)	BCAM (S486R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481932	NM_005581.5(BCAM):c.1466G>A (p.Gly489Glu)	BCAM (G489E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615835	NM_005581.5(BCAM):c.1546A>C (p.Ser516Arg)	BCAM (S516R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 439	NM_005581.5(BCAM):c.1615A>G (p.Thr539Ala)	BCAM (T539A)	Single nucleotide variant (missense variant)	LuLu phenotype +2 more	GBenign
Select item 3045250	NM_005581.5(BCAM):c.1617C>T (p.Thr539=)	BCAM	Single nucleotide variant (synonymous variant)	BCAM-related disorder	GLikely benign
Select item 713731	NM_005581.5(BCAM):c.1620G>A (p.Val540=)	BCAM	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3133200	NM_005581.5(BCAM):c.1690G>A (p.Val564Ile)	BCAM (V564I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133201	NM_005581.5(BCAM):c.1693G>A (p.Val565Ile)	BCAM (V565I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3260564	NM_005581.5(BCAM):c.1702T>C (p.Phe568Leu)	BCAM (F568L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219997	NM_005581.5(BCAM):c.1711G>A (p.Val571Met)	BCAM (V571M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 715319	NM_005581.5(BCAM):c.1739G>A (p.Arg580His)	BCAM (R580H)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3035797	NM_005581.5(BCAM):c.1764-4C>T	BCAM	Single nucleotide variant (3 prime UTR variant +1 more)	BCAM-related disorder	GLikely benign
Select item 2650087	NM_005581.5(BCAM):c.1766C>T (p.Pro589Leu)	BCAM (P589L)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 2517433	NM_005581.5(BCAM):c.1807C>T (p.Pro603Ser)	BCAM (P603S)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2621558	NM_005581.5(BCAM):c.1810G>A (p.Glu604Lys)	BCAM (E604K)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2366187	NM_005581.5(BCAM):c.1819G>A (p.Gly607Ser)	BCAM (G607S)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3260560	NM_005581.5(BCAM):c.1843G>A (p.Gly615Arg)	BCAM (G615R)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2387200	NM_005581.5(BCAM):c.1873G>A (p.Gly625Arg)	BCAM (G625R)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GLikely benign
Select item 3038688	NM_005581.5(BCAM):c.1882-9G>A	BCAM	Single nucleotide variant (intron variant)	BCAM-related disorder	GLikely benign
Select item 441	NG_007480.1:g.(7267_8082)_(8469_9169)del	BCAM	Deletion	BLOOD GROUP--LUTHERAN NULL	GPathogenic

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Items: 72