"Ambry Genetics"[submitter] AND "LRRC7"[gene] - ClinVar

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Items: 43

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2283762	NM_001370785.2(LRRC7):c.515T>C (p.Phe172Ser)	LRRC7 (F173S +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2283951	NM_001370785.2(LRRC7):c.657C>G (p.His219Gln)	LRRC7 (H220Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2462976	NM_001370785.2(LRRC7):c.703G>A (p.Gly235Ser)	LRRC7 (G235S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2339632	NM_001370785.2(LRRC7):c.899C>T (p.Ser300Phe)	LRRC7 (S267F +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2588018	NM_001370785.2(LRRC7):c.1060T>G (p.Ser354Ala)	LRRC7 (S321A +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2281133	NM_001370785.2(LRRC7):c.1555T>G (p.Cys519Gly)	LRRC7-AS1, LRRC7 (C486G +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2284380	NM_001370785.2(LRRC7):c.1565C>T (p.Pro522Leu)	LRRC7, LRRC7-AS1 (P489L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2339264	NM_001370785.2(LRRC7):c.1603G>T (p.Ala535Ser)	LRRC7, LRRC7-AS1 (A536S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2366634	NM_001370785.2(LRRC7):c.1618G>A (p.Asp540Asn)	LRRC7-AS1, LRRC7 (D540N +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2306246	NM_001370785.2(LRRC7):c.1756G>C (p.Ala586Pro)	LRRC7, LRRC7-AS1 (A553P +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2524229	NM_001370785.2(LRRC7):c.1775C>T (p.Pro592Leu)	LRRC7, LRRC7-AS1 (P592L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2547428	NM_001370785.2(LRRC7):c.2000C>G (p.Ser667Cys)	LRRC7, LRRC7-AS1 (S667C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2408119	NM_001370785.2(LRRC7):c.2347G>T (p.Ala783Ser)	LRRC7-AS1, LRRC7 (A750S +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2339486	NM_001370785.2(LRRC7):c.2357C>T (p.Pro786Leu)	LRRC7, LRRC7-AS1 (P753L +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2262793	NM_001370785.2(LRRC7):c.2423A>G (p.Asp808Gly)	LRRC7, LRRC7-AS1 (D808G +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2459877	NM_001370785.2(LRRC7):c.2429C>T (p.Ser810Leu)	LRRC7, LRRC7-AS1 (S757L +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2234100	NM_001370785.2(LRRC7):c.2492C>T (p.Pro831Leu)	LRRC7, LRRC7-AS1 (P778L +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2284942	NM_001370785.2(LRRC7):c.2525C>T (p.Ser842Leu)	LRRC7, LRRC7-AS1 (S789L +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2317009	NM_001370785.2(LRRC7):c.2533C>T (p.Arg845Cys)	LRRC7, LRRC7-AS1 (R845C +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2300997	NM_001370785.2(LRRC7):c.2782C>T (p.Pro928Ser)	LRRC7, LRRC7-AS1 (P875S +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2308453	NM_001370785.2(LRRC7):c.2860C>A (p.Pro954Thr)	LRRC7, LRRC7-AS1 (P901T +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2328473	NM_001370785.2(LRRC7):c.2911del (p.Ser971fs)	LRRC7, LRRC7-AS1 (S972fs +3 more)	Deletion (frameshift variant)	Inborn genetic diseases	GUncertain significance
Select item 2606707	NM_001370785.2(LRRC7):c.2953T>A (p.Ser985Thr)	LRRC7, LRRC7-AS1 (S952T +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2605331	NM_001370785.2(LRRC7):c.3045C>G (p.Ser1015Arg)	LRRC7, LRRC7-AS1 (S1015R +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2605380	NM_001370785.2(LRRC7):c.3048C>A (p.His1016Gln)	LRRC7, LRRC7-AS1 (H1017Q +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2480248	NM_001370785.2(LRRC7):c.3049G>A (p.Glu1017Lys)	LRRC7-AS1, LRRC7 (E964K +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2412117	NM_001370785.2(LRRC7):c.3059A>G (p.Asp1020Gly)	LRRC7, LRRC7-AS1 (D1020G +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2527262	NM_001370785.2(LRRC7):c.3142T>C (p.Tyr1048His)	LRRC7, LRRC7-AS1 (Y1048H +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2530780	NM_001370785.2(LRRC7):c.3143A>G (p.Tyr1048Cys)	LRRC7, LRRC7-AS1 (Y1049C +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2517370	NM_001370785.2(LRRC7):c.3353C>T (p.Pro1118Leu)	LRRC7, LRRC7-AS1 (P1085L +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2601187	NM_001370785.2(LRRC7):c.3356C>T (p.Pro1119Leu)	LRRC7-AS1, LRRC7 (P1120L +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2467681	NM_001370785.2(LRRC7):c.3424G>A (p.Ala1142Thr)	LRRC7, LRRC7-AS1 (A1089T +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2550965	NM_001370785.2(LRRC7):c.3437C>T (p.Ala1146Val)	LRRC7, LRRC7-AS1 (A1093V +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2299065	NM_001370785.2(LRRC7):c.3476G>A (p.Ser1159Asn)	LRRC7, LRRC7-AS1 (S1126N +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2223373	NM_001370785.2(LRRC7):c.3550C>T (p.Pro1184Ser)	LRRC7, LRRC7-AS1 (P1131S +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2546379	NM_001370785.2(LRRC7):c.3922T>G (p.Trp1308Gly)	LRRC7, LRRC7-AS1 (W1255G +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2520927	NM_001370785.2(LRRC7):c.3991A>G (p.Thr1331Ala)	LRRC7 (T1331A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2612963	NM_001370785.2(LRRC7):c.4070C>T (p.Thr1357Ile)	LRRC7 (T1357I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2278771	NM_001370785.2(LRRC7):c.4231G>A (p.Ala1411Thr)	LRRC7 (A1365T +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2469351	NM_001370785.2(LRRC7):c.4298C>T (p.Pro1433Leu)	LRRC7 (P1386L +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2280256	NM_001370785.2(LRRC7):c.4312A>C (p.Ile1438Leu)	LRRC7 (I1298L +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2610406	NM_001370785.2(LRRC7):c.4381C>T (p.Arg1461Trp)	LRRC7 (R1321W +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2344166	NM_001370785.2(LRRC7):c.4432A>G (p.Met1478Val)	LRRC7 (M1398V +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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Items: 43