"PreventionGenetics, part of Exact Sciences"[submitter] AND "BLM"[gene - ClinVar

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Items: 72

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 127473	NM_000057.4(BLM):c.11T>C (p.Val4Ala)	BLM (V4A)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer +5 more	GConflicting classifications of pathogenicity
Select item 236821	NM_000057.4(BLM):c.43C>T (p.Arg15Cys)	BLM (R15C)	Single nucleotide variant (missense variant +1 more)	Bloom syndrome +4 more	GConflicting classifications of pathogenicity
Select item 454066	NM_000057.4(BLM):c.114A>G (p.Lys38=)	BLM	Single nucleotide variant (synonymous variant +1 more)	Bloom syndrome +2 more	GBenign/Likely benign
Select item 701510	NM_000057.4(BLM):c.129A>G (p.Ser43=)	BLM	Single nucleotide variant (synonymous variant +1 more)	BLM-related disorder +2 more	GLikely benign
Select item 136507	NM_000057.4(BLM):c.174T>C (p.Pro58=)	BLM	Single nucleotide variant (synonymous variant +1 more)	Bloom syndrome +3 more	GBenign/Likely benign
Select item 133710	NM_000057.4(BLM):c.178T>A (p.Leu60Ile)	BLM (L60I)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +5 more	GConflicting classifications of pathogenicity
Select item 485337	NM_000057.4(BLM):c.226C>T (p.Pro76Ser)	BLM (P76S)	Single nucleotide variant (missense variant +1 more)	Bloom syndrome +2 more	GUncertain significance
Select item 524757	NM_000057.4(BLM):c.248A>G (p.Gln83Arg)	BLM (Q83R)	Single nucleotide variant (missense variant +1 more)	BLM-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 864406	NM_000057.4(BLM):c.428C>A (p.Ser143Tyr)	BLM (S143Y)	Single nucleotide variant (missense variant +1 more)	BLM-related disorder +2 more	GUncertain significance
Select item 644576	NM_000057.4(BLM):c.563A>G (p.Lys188Arg)	BLM (K188R)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 1759604	NM_000057.4(BLM):c.757C>G (p.Gln253Glu)	BLM (Q253E)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 254781	NM_000057.4(BLM):c.759G>A (p.Gln253=)	BLM	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GLikely benign
Select item 454165	NM_000057.4(BLM):c.808G>A (p.Glu270Lys)	BLM (E270K)	Single nucleotide variant (missense variant +1 more)	Bloom syndrome +3 more	GConflicting classifications of pathogenicity
Select item 127517	NM_000057.4(BLM):c.842A>C (p.His281Pro)	BLM (H281P)	Single nucleotide variant (missense variant +1 more)	Bloom syndrome +4 more	GUncertain significance
Select item 92397	NM_000057.4(BLM):c.893C>T (p.Thr298Met)	BLM (T298M)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GBenign
Select item 2975209	NM_000057.4(BLM):c.960-9del	BLM	Deletion (intron variant)	Bloom syndrome +1 more	GBenign/Likely benign
Select item 524826	NM_000057.4(BLM):c.960-4G>A	BLM	Single nucleotide variant (intron variant)	BLM-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 413284	NM_000057.4(BLM):c.1044G>A (p.Met348Ile)	BLM (M348I)	Single nucleotide variant (missense variant +1 more)	Bloom syndrome +4 more	GConflicting classifications of pathogenicity
Select item 236800	NM_000057.4(BLM):c.1194C>T (p.Asn398=)	BLM	Single nucleotide variant (synonymous variant)	Bloom syndrome +3 more	GLikely benign
Select item 374315	NM_000057.4(BLM):c.1544del (p.Asn515fs)	BLM (N140fs +1 more)	Deletion (frameshift variant)	not provided +3 more	GPathogenic
Select item 127478	NM_000057.4(BLM):c.1642C>T (p.Gln548Ter)	BLM (Q548* +1 more)	Single nucleotide variant (nonsense)	Bloom syndrome +3 more	GPathogenic
Select item 2603749	NM_000057.4(BLM):c.1681T>A (p.Phe561Ile)	BLM (F186I +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 136511	NM_000057.4(BLM):c.1722A>G (p.Leu574=)	BLM	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 405323	NM_000057.4(BLM):c.1927C>T (p.Arg643Cys)	BLM (R643C +1 more)	Single nucleotide variant (missense variant)	BLM-related disorder +3 more	GUncertain significance
Select item 127480	NM_000057.4(BLM):c.1928G>A (p.Arg643His)	BLM (R643H +1 more)	Single nucleotide variant (missense variant)	Bloom syndrome +4 more	GConflicting classifications of pathogenicity
Select item 454091	NM_000057.4(BLM):c.1933C>T (p.Gln645Ter)	BLM (Q645* +1 more)	Single nucleotide variant (nonsense)	Bloom syndrome +3 more	GPathogenic
Select item 405311	NM_000057.4(BLM):c.1936A>G (p.Ser646Gly)	BLM (S646G +1 more)	Single nucleotide variant (missense variant)	BLM-related disorder +2 more	GUncertain significance
Select item 524846	NM_000057.4(BLM):c.2025G>A (p.Ala675=)	BLM	Single nucleotide variant (synonymous variant)	BLM-related disorder +2 more	GLikely benign
Select item 706213	NM_000057.4(BLM):c.2070G>A (p.Pro690=)	BLM	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +2 more	GLikely benign
Select item 127482	NM_000057.4(BLM):c.2119C>T (p.Pro707Ser)	BLM (P707S +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 133697	NM_000057.4(BLM):c.2263A>G (p.Lys755Glu)	BLM (K755E +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer +5 more	GConflicting classifications of pathogenicity
Select item 254778	NM_000057.4(BLM):c.2308-50G>A	BLM	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 573676	NM_000057.4(BLM):c.2315C>T (p.Ala772Val)	BLM (A772V +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 127485	NM_000057.4(BLM):c.2362C>A (p.Leu788Ile)	BLM (L788I +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
Select item 485331	NM_000057.4(BLM):c.2505C>G (p.Pro835=)	BLM	Single nucleotide variant (synonymous variant)	Bloom syndrome +2 more	GLikely benign
Select item 42071	NM_000057.4(BLM):c.2506_2507del (p.Arg836fs)	BLM (R836fs +1 more)	Deletion (frameshift variant)	not provided +3 more	GPathogenic
Select item 497247	NM_000057.4(BLM):c.2552A>G (p.Gln851Arg)	BLM (Q851R +1 more)	Single nucleotide variant (missense variant)	Bloom syndrome +3 more	GUncertain significance
Select item 92392	NM_000057.4(BLM):c.2555+7T>C	BLM	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 413297	NM_000057.4(BLM):c.2598A>T (p.Val866=)	BLM	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +2 more	GLikely benign
Select item 92393	NM_000057.4(BLM):c.2603C>T (p.Pro868Leu)	BLM (P868L +1 more)	Single nucleotide variant (missense variant)	Bloom syndrome +3 more	GBenign
Select item 821594	NM_000057.4(BLM):c.2661A>G (p.Pro887=)	BLM	Single nucleotide variant (synonymous variant)	Bloom syndrome +3 more	GConflicting classifications of pathogenicity
Select item 127492	NM_000057.4(BLM):c.2720C>T (p.Thr907Met)	BLM (T907M +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 236807	NM_000057.4(BLM):c.2838A>G (p.Thr946=)	BLM	Single nucleotide variant (synonymous variant)	Bloom syndrome +3 more	GConflicting classifications of pathogenicity
Select item 2416636	NM_000057.4(BLM):c.2844A>G (p.Ala948=)	BLM	Single nucleotide variant (synonymous variant)	Bloom syndrome +1 more	GLikely benign
Select item 291113	NM_000057.4(BLM):c.2919C>T (p.Tyr973=)	BLM	Single nucleotide variant (synonymous variant)	BLM-related disorder +4 more	GConflicting classifications of pathogenicity
Select item 42076	NM_000057.4(BLM):c.2923del (p.Gln975fs)	BLM (Q600fs +1 more)	Deletion (frameshift variant)	not provided +3 more	GPathogenic
Select item 236810	NM_000057.4(BLM):c.3041A>G (p.His1014Arg)	BLM (H1014R +1 more)	Single nucleotide variant (missense variant)	Bloom syndrome +4 more	GConflicting classifications of pathogenicity
Select item 696836	NM_000057.4(BLM):c.3045A>G (p.Thr1015=)	BLM	Single nucleotide variant (synonymous variant)	not provided +3 more	GLikely benign
Select item 92394	NM_000057.4(BLM):c.3102G>A (p.Thr1034=)	BLM	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +2 more	GBenign
Select item 236811	NM_000057.4(BLM):c.3210+4A>G	BLM	Single nucleotide variant (intron variant)	Bloom syndrome +3 more	GConflicting classifications of pathogenicity
Select item 524831	NM_000057.4(BLM):c.3210+10G>T	BLM	Single nucleotide variant (intron variant)	BLM-related disorder +1 more	GLikely benign
Select item 254779	NM_000057.4(BLM):c.3210+44del	BLM	Deletion (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 485333	NM_000057.4(BLM):c.3225A>G (p.Arg1075=)	BLM	Single nucleotide variant (synonymous variant)	not provided +4 more	GLikely benign
Select item 454132	NM_000057.4(BLM):c.3261del (p.Phe1087fs)	BLM (F1087fs +1 more)	Deletion (frameshift variant)	Hereditary cancer-predisposing syndrome +3 more	GPathogenic
Select item 413303	NM_000057.4(BLM):c.3348C>T (p.Asp1116=)	BLM	Single nucleotide variant (synonymous variant)	Bloom syndrome +2 more	GLikely benign
Select item 254780	NM_000057.4(BLM):c.3358+32T>G	BLM	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 948949	NM_000057.4(BLM):c.3371C>T (p.Ala1124Val)	BLM (A1124V +1 more)	Single nucleotide variant (missense variant +1 more)	BLM-related disorder +2 more	GUncertain significance
Select item 92395	NM_000057.4(BLM):c.3531C>A (p.Ala1177=)	BLM	Single nucleotide variant (synonymous variant +1 more)	BLM-related disorder +4 more	GBenign
Select item 127500	NM_000057.4(BLM):c.3592G>A (p.Val1198Met)	BLM (V1198M +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GLikely benign
Select item 127501	NM_000057.4(BLM):c.3625T>A (p.Ser1209Thr)	BLM (S1209T +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 136518	NM_000057.4(BLM):c.3798T>G (p.Val1266=)	BLM	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 485336	NM_000057.4(BLM):c.3813G>A (p.Leu1271=)	BLM	Single nucleotide variant (synonymous variant)	Bloom syndrome +3 more	GConflicting classifications of pathogenicity
Select item 405304	NM_000057.4(BLM):c.3828G>A (p.Ala1276=)	BLM	Single nucleotide variant (synonymous variant)	BLM-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 524822	NM_000057.4(BLM):c.3867A>G (p.Thr1289=)	BLM	Single nucleotide variant (synonymous variant)	not provided +3 more	GLikely benign
Select item 236819	NM_000057.4(BLM):c.3879A>G (p.Glu1293=)	BLM	Single nucleotide variant (synonymous variant)	Bloom syndrome +4 more	GConflicting classifications of pathogenicity
Select item 1160997	NM_000057.4(BLM):c.3900C>T (p.Ser1300=)	BLM	Single nucleotide variant (synonymous variant)	BLM-related disorder +2 more	GLikely benign
Select item 92396	NM_000057.4(BLM):c.3945C>T (p.Leu1315=)	BLM	Single nucleotide variant (synonymous variant)	Bloom syndrome +3 more	GBenign
Select item 128530	NM_000057.4(BLM):c.3961G>A (p.Val1321Ile)	BLM (V1321I +2 more)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign
Select item 485342	NM_000057.4(BLM):c.4067A>G (p.Lys1356Arg)	BLM (K1356R +2 more)	Single nucleotide variant (missense variant)	Bloom syndrome +2 more	GConflicting classifications of pathogenicity
Select item 136520	NM_000057.4(BLM):c.4076+4T>G	BLM	Single nucleotide variant (intron variant)	not specified +4 more	GBenign/Likely benign
Select item 3037058	NM_000057.4(BLM):c.4191G>T (p.Gly1397=)	BLM	Single nucleotide variant (synonymous variant)	BLM-related disorder	GLikely benign
Select item 2682143	NM_000057.4(BLM):c.*6G>T	BLM	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity

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Items: 72