ClinVar for Gene (Select 51599) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3292176	NM_205834.4(LSR):c.1484T>G (p.Phe495Cys)	LSR (F387C +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3292175	NM_205834.4(LSR):c.1662G>C (p.Glu554Asp)	LSR (E486D +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3292174	NM_205834.4(LSR):c.1331G>A (p.Arg444His)	LSR (R444H +5 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3292173	NM_205834.4(LSR):c.1621C>T (p.Arg541Trp)	LSR (R472W +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3292172	NM_205834.4(LSR):c.643G>A (p.Val215Met)	LSR (V196M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3242311	GRCh37/hg19 19q13.11-13.12(chr19:35223021-36895699)x1	ALKBH6, APLP1 +63 more	Copy number loss	not provided	GPathogenic
Select item 3121353	NM_205834.4(LSR):c.579G>T (p.Arg193Ser)	LSR (R193S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3121351	NM_205834.4(LSR):c.271G>A (p.Ala91Thr)	LSR (A91T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121350	NM_205834.4(LSR):c.73G>A (p.Val25Ile)	LSR (V25I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121349	NM_205834.4(LSR):c.1801G>C (p.Val601Leu)	LSR (V532L +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121348	NM_205834.4(LSR):c.1613A>G (p.Tyr538Cys)	LSR (Y470C +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121347	NM_205834.4(LSR):c.1576C>T (p.Pro526Ser)	LSR (P458S +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121346	NM_205834.4(LSR):c.1439G>A (p.Ser480Asn)	LSR (S460N +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121344	NM_205834.4(LSR):c.1349A>G (p.Asp450Gly)	LSR (D342G +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121342	NM_205834.4(LSR):c.1177G>A (p.Asp393Asn)	LSR (D325N +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121341	NM_205834.4(LSR):c.1140G>C (p.Glu380Asp)	LSR (E272D +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121340	NM_205834.4(LSR):c.1123C>T (p.Pro375Ser)	LSR (P356S +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121339	NM_205834.4(LSR):c.1090C>G (p.Leu364Val)	LSR (L344V +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121338	NM_205834.4(LSR):c.959G>C (p.Gly320Ala)	LSR (G320A +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121336	NM_205834.4(LSR):c.907G>A (p.Gly303Arg)	LSR (G303R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3064813	NM_205834.4(LSR):c.722GCT[2] (p.Cys243del)	LSR (C224del +1 more)	Microsatellite (inframe_deletion +1 more)	not provided	GUncertain significance
Select item 3062386	GRCh37/hg19 19q11-13.2(chr19:28271146-41508851)x3	SLC7A9, SNRPA +215 more	Copy number gain	not specified	GPathogenic
Select item 2999294	NM_205834.4(LSR):c.1013-14C>G	LSR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2992847	NM_205834.4(LSR):c.321C>T (p.Ala107=)	LSR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2991588	NM_205834.4(LSR):c.85C>T (p.Leu29Phe)	LSR (L29F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2981696	NM_205834.4(LSR):c.1124C>G (p.Pro375Arg)	LSR (P356R +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2978355	NM_205834.4(LSR):c.1012+18C>T	LSR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2975515	NM_205834.4(LSR):c.855C>T (p.Pro285=)	LSR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2969294	NM_205834.4(LSR):c.787G>A (p.Ala263Thr)	LSR (A244T +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2965560	NM_205834.4(LSR):c.479C>T (p.Thr160Met)	LSR (T160M)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2959416	NM_205834.4(LSR):c.631+20A>G	LSR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2959149	NM_205834.4(LSR):c.1770+19G>A	LOC130064214, LSR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2919237	NM_205834.4(LSR):c.1325G>T (p.Arg442Leu)	LSR (R423L +5 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2918675	NM_205834.4(LSR):c.1429C>A (p.Pro477Thr)	LSR (P369T +5 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2917243	NM_205834.4(LSR):c.931G>A (p.Asp311Asn)	LSR (D203N +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2905321	NM_205834.4(LSR):c.402C>T (p.Asn134=)	LSR	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2898426	NM_205834.4(LSR):c.920_931dup (p.Gly310_Asp311insGlyTyrProGly)	LSR	Duplication (inframe_insertion)	not provided	GLikely benign
Select item 2886900	NM_205834.4(LSR):c.571C>T (p.Leu191Phe)	LSR (L191F)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2878536	NM_205834.4(LSR):c.8T>A (p.Leu3Gln)	LSR (L3Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2863333	NM_205834.4(LSR):c.19G>A (p.Gly7Arg)	LSR (G7R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2861251	NM_015925.6(LSR):c.69delC (p.Trp24Glyfs)	LSR	Deletion (frameshift variant)	not provided	GLikely benign
Select item 2860662	NM_205834.4(LSR):c.1053C>T (p.Asp351=)	LSR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2854250	NM_205834.4(LSR):c.1757G>A (p.Arg586His)	LSR (R518H +5 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2854020	NM_205834.4(LSR):c.98C>A (p.Thr33Asn)	LSR (T33N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2807768	NM_205834.4(LSR):c.1737C>T (p.Asp579=)	LSR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2804958	NM_205834.4(LSR):c.646G>T (p.Val216Phe)	LSR (V197F +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2803131	NM_205834.4(LSR):c.310C>T (p.Gln104Ter)	LSR (Q104*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2801685	NM_205834.4(LSR):c.1099T>G (p.Phe367Val)	LSR (F299V +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2796679	NM_205834.4(LSR):c.66C>T (p.Asp22=)	LSR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2747950	NM_205834.4(LSR):c.681C>T (p.Leu227=)	LSR	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2746821	NM_205834.4(LSR):c.73G>T (p.Val25Phe)	LSR (V25F)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2740974	NM_205834.4(LSR):c.1560C>A (p.His520Gln)	LSR (H500Q +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2726530	NM_205834.4(LSR):c.1178A>G (p.Asp393Gly)	LSR (D324G +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2719907	NM_205834.4(LSR):c.1501C>T (p.Pro501Ser)	LSR (P393S +5 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2719906	NM_205834.4(LSR):c.455-8C>T	LSR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2718442	NM_205834.4(LSR):c.1013-10_1013-9del	LSR	Deletion (intron variant)	not provided	GLikely benign
Select item 2718106	NM_205834.4(LSR):c.1688A>C (p.Glu563Ala)	LSR (E455A +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2716282	NM_205834.4(LSR):c.1653G>A (p.Gly551=)	LSR	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2713760	NM_205834.4(LSR):c.1115C>G (p.Pro372Arg)	LSR (P304R +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2712862	NM_205834.4(LSR):c.733G>A (p.Val245Ile)	LSR (V226I +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2699559	NM_205834.4(LSR):c.282G>A (p.Pro94=)	LSR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2696798	NM_205834.4(LSR):c.631+9G>T	LSR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2671623	Single allele	ALKBH6, APLP1 +72 more	Deletion	not provided	GPathogenic
Select item 2649715	NM_205834.4(LSR):c.33G>T (p.Gly11=)	LSR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2599157	NM_205834.4(LSR):c.346G>A (p.Val116Ile)	LSR (V116I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593832	NM_205834.4(LSR):c.1651G>A (p.Gly551Arg)	LSR (G443R +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589484	NM_205834.4(LSR):c.1238G>A (p.Gly413Asp)	LSR (G413D +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2557831	NM_205834.3(LSR):c.89G>C (p.Arg30Pro)	LSR (R30P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552820	NM_205834.4(LSR):c.976C>T (p.Pro326Ser)	LSR (P218S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549455	NM_205834.4(LSR):c.992C>G (p.Thr331Arg)	LSR (T223R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540513	NM_205834.4(LSR):c.253C>T (p.Arg85Trp)	LSR (R85W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540416	NM_205834.4(LSR):c.868C>G (p.Pro290Ala)	LSR (P290A +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540202	NM_205834.4(LSR):c.32G>A (p.Gly11Glu)	LSR (G11E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537921	NM_205834.4(LSR):c.249C>G (p.Phe83Leu)	LSR (F83L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518728	NM_205834.4(LSR):c.1270G>A (p.Asp424Asn)	LSR (D424N +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473805	NM_205834.4(LSR):c.25T>G (p.Ser9Ala)	LSR (S9A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2424426	NC_000019.9:g.(?_33167170)_(36643309_?)dup	ALKBH6, APLP1 +83 more	Duplication	Hereditary spastic paraplegia 75	GUncertain significance
Select item 2416756	NM_205834.4(LSR):c.260G>C (p.Arg87Pro)	LSR (R87P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2414011	NM_205834.4(LSR):c.779-12G>A	LSR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2407782	NM_205834.4(LSR):c.43C>T (p.His15Tyr)	LSR (H15Y)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2396474	NM_205834.4(LSR):c.1264G>A (p.Gly422Arg)	LSR (G353R +5 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2393444	NM_205834.4(LSR):c.1337T>C (p.Val446Ala)	LSR (V426A +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385965	NM_205834.4(LSR):c.265G>A (p.Ala89Thr)	LSR (A89T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353663	NM_205834.4(LSR):c.923A>C (p.Tyr308Ser)	LSR (Y289S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348815	NM_205834.4(LSR):c.967T>G (p.Ser323Ala)	LSR (S304A +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2322398	NM_205834.4(LSR):c.1265G>A (p.Gly422Glu)	LSR (G403E +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302884	NM_205834.4(LSR):c.799G>A (p.Ala267Thr)	LSR (A159T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2267026	NM_205834.4(LSR):c.979C>A (p.Leu327Met)	LSR (L259M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266891	NM_205834.4(LSR):c.1469A>G (p.Asp490Gly)	LSR (D382G +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266008	NM_205834.4(LSR):c.1274A>C (p.Gln425Pro)	LSR (Q425P +5 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2263738	NM_205834.4(LSR):c.664G>C (p.Ala222Pro)	LSR (A203P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2256273	NM_205834.4(LSR):c.818G>C (p.Ser273Thr)	LSR (S165T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254765	NM_205834.4(LSR):c.358G>T (p.Asp120Tyr)	LSR (D120Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253761	NM_205834.4(LSR):c.1225G>A (p.Asp409Asn)	LSR (D409N +5 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2248466	NM_205834.4(LSR):c.1655C>T (p.Ser552Leu)	LSR (S483L +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245937	NM_205834.4(LSR):c.154G>A (p.Val52Met)	LSR (V52M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245076	NM_205834.4(LSR):c.344A>T (p.Tyr115Phe)	LSR (Y115F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220346	NM_205834.4(LSR):c.56C>G (p.Ala19Gly)	LSR (A19G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2161770	NM_205834.4(LSR):c.1052A>C (p.Asp351Ala)	LSR (D331A +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2161291	NM_205834.4(LSR):c.631+5G>A	LSR	Single nucleotide variant (intron variant)	not provided	GUncertain significance

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